SE-ATLAS

12q14 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 15q overgrowth syndrome 15q13.3 microdeletion syndrome 15q24 microdeletion syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q21.31 microduplication syndrome 19p13.13 microdeletion syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 20q11.2 microduplication syndrome 2q37 microdeletion syndrome 3C syndrome 3M syndrome 3MC syndrome 3q27.3 microdeletion syndrome 48,XXXY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXY syndrome 8q21.11 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome ADNP syndrome ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ANK3-related intellectual disability-sleep disturbance syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome Absent radius-anogenital anomalies syndrome Absent tibia-polydactyly-arachnoid cyst syndrome Acheiria Acheiria, bilateral Acheiria, unilateral Acheiropodia Achondrogenesis Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondroplasia Acrocallosal syndrome Acrocapitofemoral dysplasia Acrocardiofacial syndrome Acrocephalopolydactyly Acrocephalosyndactyly Acrocraniofacial dysostosis Acrodysostosis Acrodysostosis with multiple hormone resistance Acrodysplasia scoliosis Acrofacial dysostosis Acrofacial dysostosis, Catania type Acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Weyers type Acrofrontofacionasal dysostosis Acromelic dysplasia Acromelic frontonasal dysplasia Acromesomelic dysplasia Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Maroteaux type Acromicric dysplasia Acropectoral syndrome Acropectororenal dysplasia Acropectorovertebral dysplasia Adactyly of foot, bilateral Adactyly of foot, unilateral Adactyly of hand Adams-Oliver syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Adenylosuccinate lyase deficiency Adult hypophosphatasia Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agnathia-holoprosencephaly-situs inversus syndrome Aicardi syndrome Aicardi-Goutières syndrome Alazami syndrome Albers-Schönberg osteopetrosis Albright hereditary osteodystrophy Allan-Herndon-Dudley syndrome Alobar holoprosencephaly Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Amelia Amelia of lower limb Amelia of lower limb, bilateral Amelia of lower limb, unilateral Amelia of upper limb Amelia of upper limb, bilateral Amelia of upper limb, unilateral Amish infantile epilepsy syndrome Amniotic bands Anauxetic dysplasia Angel-shaped phalango-epiphyseal dysplasia Angelman syndrome Angelman syndrome due to a point mutation Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankylosing vertebral hyperostosis with tylosis Antley-Bixler syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Apert syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Aphalangy-syndactyly-microcephaly syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Apodia Apodia, bilateral Apodia, unilateral Arachnodactyly-abnormal ossification-intellectual disability syndrome Arthrogryposis due to muscular dystrophy Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis syndrome Arthrogryposis-anterior horn cell disease syndrome Arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-like hand anomaly-sensorineural deafness syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-severe scoliosis syndrome Astley-Kendall dysplasia Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Atkin-Flaitz syndrome Atypical Rett syndrome Auriculoosteodysplasia Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant Kenny-Caffey syndrome Autosomal dominant Opitz G/BBB syndrome Autosomal dominant Robinow syndrome Autosomal dominant brachyolmia Autosomal dominant deafness-onychodystrophy syndrome Autosomal dominant hypophosphatemic rickets Autosomal dominant multiple pterygium syndrome Autosomal dominant omodysplasia Autosomal dominant osteopetrosis type 1 Autosomal dominant otospondylomegaepiphyseal dysplasia Autosomal dominant popliteal pterygium syndrome Autosomal dominant spondylocostal dysostosis Autosomal recessive Kenny-Caffey syndrome Autosomal recessive Robinow syndrome Autosomal recessive Stickler syndrome Autosomal recessive amelia Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive distal osteolysis syndrome Autosomal recessive hypophosphatemic rickets Autosomal recessive malignant osteopetrosis Autosomal recessive multiple pterygium syndrome Autosomal recessive omodysplasia Autosomal recessive spastic paraplegia type 11 Autosomal recessive spondylocostal dysostosis Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Avascular necrosis Axial spondylometaphyseal dysplasia Aymé-Gripp syndrome B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BRESEK syndrome Bainbridge-Ropers syndrome Ballard syndrome Baller-Gerold syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bartsocas-Papas syndrome Biemond syndrome type 2 Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria Bilateral perisylvian polymicrogyria Bilateral polymicrogyria Bipartite talus Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Blepharophimosis-intellectual disability syndrome, MKB type Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-radioulnar synostosis syndrome Blomstrand lethal chondrodysplasia Blount disease Bohring-Opitz syndrome Bone dysplasia, Azouz type Bone dysplasia, lethal Holmgren type Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly Brachydactyly of fingers Brachydactyly of toes Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-syndactyly, Zhao type Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain-lung-thyroid syndrome Bruck syndrome Buschke-Ollendorff syndrome C syndrome CEDNIK syndrome CHILD syndrome CHIME syndrome CHST3-related skeletal dysplasia CK syndrome COFS syndrome COG1-CDG COG4-CDG COG5-CDG COG8-CDG CTCF-related neurodevelopmental disorder Caffey disease Calvarial doughnut lesions-bone fragility syndrome Campomelia, Cumming type Campomelic dysplasia Campomelic dysplasia and related disorders Camptobrachydactyly Camptodactyly of fingers Camptodactyly-tall stature-scoliosis-hearing loss syndrome Camurati-Engelmann disease Cantú syndrome Cardiocranial syndrome, Pfeiffer type Cardiofaciocutaneous syndrome Carney complex-trismus-pseudocamptodactyly syndrome Carpenter syndrome Carpenter-Waziri syndrome Carpotarsal osteochondromatosis Cartilage-hair hypoplasia Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Caudal appendage-deafness syndrome Cenani-Lenz syndrome Central polydactyly Central polydactyly of fingers, bilateral Central polydactyly of fingers, unilateral Central polydactyly of toes Central polydactyly of toes, bilateral Central polydactyly of toes, unilateral Cerebrocostomandibular syndrome Cerebrofaciothoracic dysplasia Cerebrooculonasal syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Charlie M syndrome Cheirospondyloenchondromatosis Cherubism Childhood-onset hypophosphatasia Chondrodysplasia punctata Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, tibial-metacarpal type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia-difference of sex development syndrome Chondroectodermal dysplasia with night blindness Christianson syndrome Chudley-Lowry-Hoar syndrome Ciliopathies with major skeletal involvement Cleft palate-short stature-vertebral anomalies syndrome Cleidocranial dysplasia Cleidocranial dysplasia and isolated cranial ossification defect Cleidorhizomelic syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-multiple congenital anomalies syndrome Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Coffin-Lowry syndrome Coffin-Siris syndrome Cohen syndrome Cole-Carpenter syndrome Congenital absence of both forearm and hand Congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, unilateral Congenital absence of both lower leg and foot Congenital absence of both lower leg and foot, bilateral Congenital absence of both lower leg and foot, unilateral Congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present, bilateral Congenital absence of upper arm and forearm with hand present, unilateral Congenital absence/hypoplasia of fingers excluding thumb Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital central hypoventilation syndrome Congenital contractural arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital hypoplasia of thumb Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy, Fukuyama type Congenital patella dislocation Congenital patella dislocation, bilateral Congenital patella dislocation, unilateral Congenital pseudoarthrosis of the clavicle Congenital pseudoarthrosis of the femur Congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the limbs Congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the tibia Congenital pseudoarthrosis of the ulna Congenital radioulnar synostosis Congenital sialidosis type 2 Congenital vascular bone syndrome Congenital vertical talus Congenital vertical talus, bilateral Congenital vertical talus, unilateral Constriction rings syndrome Contractures-ectodermal dysplasia-cleft lip/palate syndrome Cooks syndrome Cornelia de Lange syndrome Corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Cortical blindness-intellectual disability-polydactyly syndrome Costello syndrome Coxoauricular syndrome Coxopodopatellar syndrome Crane-Heise syndrome Cranio-osteoarthropathy Craniodiaphyseal dysplasia Craniodigital-intellectual disability syndrome Cranioectodermal dysplasia Craniofacial conodysplasia Craniofaciofrontodigital syndrome Craniofrontonasal dysplasia Craniofrontonasal dysplasia-Poland anomaly syndrome Craniolenticulosutural dysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniomicromelic syndrome Craniosynostosis Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis-cataract syndrome Craniosynostosis-dental anomalies Craniosynostosis-dysmorphism-brachydactyly syndrome Craniosynostosis-fibular aplasia syndrome Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-intracranial calcifications syndrome Craniotelencephalic dysplasia Crisponi syndrome Crossed polysyndactyly Crouzon syndrome Crouzon syndrome-acanthosis nigricans syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome Currarino syndrome Curry-Jones syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Czeizel-Losonci syndrome DOORS syndrome DPAGT1-CDG Dacryocystitis-osteopoikilosis syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Dappled diaphyseal dysplasia Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-intellectual disability syndrome, Martin-Probst type Deafness-onychodystrophy syndrome Delayed membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Diaphanospondylodysostosis Diaphyseal medullary stenosis-bone malignancy syndrome Diastrophic dysplasia Difference of sex development-intellectual disability syndrome Digital anomalies-intellectual disability-short stature syndrome Disorders of vitamin D metabolism Distal Xq28 microduplication syndrome Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 3p Distal deletion 6p Distal duplication 15q Distal symphalangism Distal triplication 15q Dobrow syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dubowitz syndrome Dyggve-Melchior-Clausen disease Dyschondrosteosis-nephritis syndrome Dyskeratosis congenita Dysmorphism-short stature-deafness-difference of sex development syndrome Dysosteosclerosis Dysostosis Dysostosis of genetic origin Dysostosis of genetic origin with limb anomaly as a major feature Dysostosis with brachydactyly Dysostosis with combined reduction defects of upper and lower limbs Dysostosis with limb and face anomalies as a major feature Dysostosis with limb anomaly as a major feature Dysostosis with predominant craniofacial involvement Dysostosis with predominant vertebral and costal involvement Dysostosis, Stanescu type Dysplasia epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker type Dysspondyloenchondromatosis EEC syndrome EEM syndrome Ear-patella-short stature syndrome Early-onset X-linked optic atrophy Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset parkinsonism-intellectual disability syndrome Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectrodactyly-polydactyly syndrome Eiken syndrome Ellis Van Creveld syndrome Emery-Nelson syndrome Endocrine-cerebro-osteodysplasia syndrome Endosteal hyperostosis, Worth type Endosteal sclerosis-cerebellar hypoplasia syndrome Enlarged parietal foramina Epilepsy-microcephaly-skeletal dysplasia syndrome Epiphyseal stippling-osteoclastic hyperplasia syndrome Epiphysiolysis of the hip Exostoses-anetodermia-brachydactyly type E syndrome Extensor tendons of finger anomalies Eyebrow duplication-syndactyly syndrome FATCO syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FGFR2-related bent bone dysplasia FOXP1 Syndrome FRAXE intellectual disability Facial dysmorphism-shawl scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial avascular necrosis of femoral head Familial chondromalacia patellae Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial digital arthropathy-brachydactyly Familial expansile osteolysis Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial infantile bilateral striatal necrosis Familial isolated clinodactyly of fingers Familial lambdoid synostosis Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial scaphocephaly syndrome Familial scaphocephaly syndrome, McGillivray type Fanconi anemia Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Female restricted epilepsy with intellectual disability Femoral agenesis/hypoplasia Femoral agenesis/hypoplasia, bilateral Femoral agenesis/hypoplasia, unilateral Femoral-facial syndrome Femur-fibula-ulna complex Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular dimelia-diplopodia syndrome Fibular hemimelia Fibular hemimelia, bilateral Fibular hemimelia, unilateral Filippi syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Floating-Harbor syndrome Focal dermal hypoplasia Fountain syndrome Fragile X syndrome Frank-Ter Haar syndrome Freeman-Sheldon syndrome Fried syndrome Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia-alopecia-genital anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Fryns syndrome Fuhrmann syndrome Full NF2-related schwannomatosis Full schwannomatosis GAPO syndrome GM3 synthase deficiency GMPPB-related limb-girdle muscular dystrophy R19 GMS syndrome Galloway-Mowat syndrome Geleophysic dysplasia Genetic syndrome with limb reduction defects Genitopatellar syndrome Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Global developmental delay-osteopenia-ectodermal defect syndrome Glossopalatine ankylosis Glycerol kinase deficiency, infantile form Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gnathodiaphyseal dysplasia Goldberg-Shprintzen megacolon syndrome Goldenhar syndrome Gollop-Wolfgang complex Goodman syndrome Gordon syndrome Gorham-Stout disease Grant syndrome Greenberg dysplasia Greig cephalopolysyndactyly syndrome Grubben-de Cock-Borghgraef syndrome Guanidinoacetate methyltransferase deficiency Guttmacher syndrome Gómez-López-Hernández syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type Hair defect-photosensitivity-intellectual disability syndrome Hajdu-Cheney syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallux varus-preaxial polysyndactyly syndrome Hamel cerebro-palato-cardiac syndrome Hand-foot-genital syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hemimelia Hennekam syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary breast cancer Hereditary bullous dystrophy, macular type Hereditary cryohydrocytosis with reduced stomatin Hereditary hypophosphatemic rickets with hypercalciuria Hernández-Aguirre Negrete syndrome Hip dysplasia, Beukes type Hirsutism-skeletal dysplasia-intellectual disability syndrome Holmes-Gang syndrome Holoprosencephaly Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holt-Oram syndrome Hoyeraal-Hreidarsson syndrome Humeral agenesis/hypoplasia Humeral agenesis/hypoplasia, bilateral Humeral agenesis/hypoplasia, unilateral Humero-radial synostosis Humero-radial synostosis, bilateral Humero-radial synostosis, unilateral Humero-radio-ulnar synostosis Humero-radio-ulnar synostosis, bilateral Humero-radio-ulnar synostosis, unilateral Humero-ulnar synostosis Humero-ulnar synostosis, bilateral Humero-ulnar synostosis, unilateral Humerus trochlea aplasia Hunter-McAlpine syndrome Hutchinson-Gilford progeria syndrome Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrocephaly-cerebellar agenesis syndrome Hyperekplexia-epilepsy syndrome Hyperostosis corticalis generalisata Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphosphatasia-intellectual disability syndrome Hypertelorism-microtia-facial clefting syndrome Hypocalcemic rickets Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypochondrogenesis Hypochondroplasia Hypoglossia-hypodactyly syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination-congenital cataract syndrome Hypophosphatasia Hypophosphatemic rickets Hypoplastic tibiae-postaxial polydactyly syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome ISPD-related limb-girdle muscular dystrophy R20 IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Idiopathic avascular necrosis Idiopathic juvenile osteoporosis Imperforate oropharynx-costovertebral anomalies syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Incontinentia pigmenti Infantile bilateral striatal necrosis Infantile hypophosphatasia Infantile osteopetrosis with neuroaxonal dysplasia Infantile spasms syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability, Birk-Barel type Intellectual disability, Buenos-Aires type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-kyphosis syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intercalary limb defects Intermediate osteopetrosis Inverse Klippel-Trénaunay syndrome Ischiovertebral syndrome Isolated Klippel-Feil syndrome Isolated anencephaly/exencephaly Isolated cloverleaf skull syndrome Isolated complex I deficiency Isolated congenital digital clubbing Isolated congenital radial head dislocation Isolated osteopoikilosis Isolated oxycephaly Isolated plagiocephaly Isolated split hand-split foot malformation Jackson-Weiss syndrome Jeune syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Joint formation defects Joubert syndrome with Jeune asphyxiating thoracic dystrophy Juberg-Marsidi syndrome Juvenile Paget disease Juvenile hyaline fibromatosis Juvenile sialidosis type 2 KBG syndrome KDM5C-related syndromic X-linked intellectual disability Kabuki syndrome Kapur-Toriello syndrome Karsch-Neugebauer syndrome Kenny-Caffey syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keutel syndrome Kienbock disease Kleefstra syndrome Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation Klippel-Trénaunay syndrome Kniest dysplasia Kuskokwim syndrome Kyphomelic dysplasia L1 syndrome Lacrimoauriculodentodigital syndrome Langer mesomelic dysplasia Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis-intellectual disability syndrome Lateral meningocele syndrome Laurence-Moon syndrome Laurin-Sandrow syndrome Legg-Calvé-Perthes disease Lenz-Majewski hyperostotic dwarfism Leri pleonosteosis Lesch-Nyhan syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal ataxia with deafness and optic atrophy Lethal chondrodysplasia Lethal chondrodysplasia, Moerman type Lethal chondrodysplasia, Seller type Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal faciocardiomelic dysplasia Lethal multiple pterygium syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteosclerotic bone dysplasia Lethal recessive chondrodysplasia Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Limb-mammary syndrome Lipodystrophy-intellectual disability-deafness syndrome Lissencephaly Lissencephaly type 1 due to doublecortin gene mutation Lobar holoprosencephaly Lower limb hypertrophy Lowry-MacLean syndrome Lowry-Wood syndrome Lujan-Fryns syndrome Léri-Weill dyschondrosteosis MAGEL2-related Prader-Willi-like syndrome MAN1B1-CDG MASA syndrome MEDNIK syndrome MEHMO syndrome MEND syndrome MGAT2-CDG MMEP syndrome MPDU1-CDG Macrocephaly-developmental delay syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Madelung deformity Madelung deformity, bilateral Madelung deformity, unilateral Maffucci syndrome Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Mammary-digital-nail syndrome Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Mandibulofacial dysostosis-microcephaly syndrome Marden-Walker syndrome Marfan syndrome Marfan syndrome type 1 Marfan syndrome type 2 Marshall syndrome Mazabraud syndrome McCune-Albright syndrome McDonough syndrome Meckel syndrome Medial condensing osteitis of the clavicle Megalocornea-intellectual disability syndrome Melhem-Fahl syndrome Melnick-Needles syndrome Melorheostosis Melorheostosis with osteopoikilosis Menkes disease Mesoaxial synostotic syndactyly with phalangeal reduction Mesomelia-synostoses syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Savarirayan type Metachondromatosis Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metatropic dysplasia Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic primordial dwarfism Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Montreal type Microcephalic primordial dwarfism, Toriello type Microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Microcephaly-deafness-intellectual disability syndrome Microcephaly-microcornea syndrome, Seemanova type Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microduplication Xp11.22p11.23 syndrome Microform holoprosencephaly Microlissencephaly-micromelia syndrome Micromelic dwarfism, Fryns type Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharon-intellectual disability syndrome Microphthalmia-brain atrophy syndrome Midline interhemispheric variant of holoprosencephaly Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mohr-Tranebjaerg syndrome Monoamine oxidase A deficiency Mononen-Karnes-Senac syndrome Monosomy 22q13.3 Monosomy X Monostotic fibrous dysplasia Mosaic monosomy X Mowat-Wilson syndrome Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to monosomy 2q22 Moynahan syndrome Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Muenke syndrome Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric osteolysis-nodulosis-arthropathy spectrum Multiple congenital anomalies-hypotonia-seizures syndrome Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple metaphyseal dysplasia Multiple non-ossifying fibromatosis Multiple osteochondromas Multiple pterygium syndrome Multiple pterygium-malignant hyperthermia syndrome Multiple synostoses syndrome Muscle-eye-brain disease Musculocontractural Ehlers-Danlos syndrome Myhre syndrome Myopathy-growth delay-intellectual disability-hypospadias syndrome Nager syndrome Nail-patella syndrome Nance-Horan syndrome Nasu-Hakola disease Neonatal Marfan syndrome Neonatal osteosclerotic dysplasia Neonatal severe primary hyperparathyroidism Nestor-Guillermo progeria syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Neuroectodermal-endocrine syndrome Neurofaciodigitorenal syndrome Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurogenic arthrogryposis multiplex congenita Nicolaides-Baraitser syndrome Nodular neuronal heterotopia Nodulosis-arthropathy-osteolysis syndrome Non syndromic limb overgrowth Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature Non-rhizomelic chondrodysplasia punctata Non-syndromic bicoronal craniosynostosis Non-syndromic craniosynostosis Non-syndromic limb malformation Non-syndromic limb reduction defect Non-syndromic metopic craniosynostosis Non-syndromic polydactyly Non-syndromic polydactyly, syndactyly and/or hyperphalangy Non-syndromic sagittal craniosynostosis Non-syndromic syndactyly Norrie disease Null syndrome OBSOLETE: Peripheral dysostosis Oculo-palato-cerebral syndrome Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebrofacial syndrome, Kaufman type Oculocerebrorenal syndrome of Lowe Oculodentodigital dysplasia Oculofaciocardiodental syndrome Oculomaxillofacial dysostosis Odontochondrodysplasia Odontohypophosphatasia Okamoto syndrome Okihiro syndrome Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to a point mutation Oliver syndrome Ollier disease Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Oncogenic osteomalacia Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz GBBB syndrome Opsismodysplasia Optic atrophy-intellectual disability syndrome Ornithine transcarbamylase deficiency Orofaciodigital syndrome Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 10 Orofaciodigital syndrome type 11 Orofaciodigital syndrome type 12 Orofaciodigital syndrome type 13 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 9 Oromandibular-limb hypogenesis syndrome Osgood-Schlatter disease Ossification anomalies-psychomotor developmental delay syndrome Osteochondritis dissecans Osteochondritis of tarsal/metatarsal bone Osteochondrosis Osteocraniostenosis Osteogenesis imperfecta Osteoglosphonic dysplasia Osteomesopyknosis Osteonecrosis Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disability-sparse hair syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG POMT1-related limb-girdle muscular dystrophy R11 POMT2-related limb-girdle muscular dystrophy R14 Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pai syndrome Pallister-Hall syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Panner disease Paraplegia-brachydactyly-cone-shaped epiphysis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome Parastremmatic dwarfism Parietal foramina with clavicular hypoplasia Parkes Weber syndrome Partington syndrome Patella aplasia/hypoplasia Patella aplasia/hypoplasia, bilateral Patella aplasia/hypoplasia, unilateral Patellar dysostosis Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patterson-Stevenson-Fontaine syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, transitional form Pelvic dysplasia-arthrogryposis of lower limbs syndrome Pelvis-shoulder dysplasia Pelviscapular dysplasia Perinatal lethal hypophosphatasia Periventricular nodular heterotopia Peters plus syndrome Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Pfeiffer-Palm-Teller syndrome Phalangeal microgeodic syndrome Phocomelia, Schinzel type Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phosphoribosylpyrophosphate synthetase superactivity Pitt-Hopkins syndrome Pitt-Hopkins-like syndrome Platyspondylic dysplasia, Torrance type Poland syndrome Polydactyly of a biphalangeal thumb and/or hallux Polydactyly of a triphalangeal thumb Polydactyly of an index finger Polydactyly-myopia syndrome Polymicrogyria Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polymicrogyria-turricephaly-hypogenitalism syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyostotic fibrous dysplasia Polysyndactyly Popliteal pterygium syndrome Postaxial acrofacial dysostosis Postaxial polydactyly of fingers Postaxial polydactyly of toes Postaxial polydactyly of toes, bilateral Postaxial polydactyly of toes, unilateral Postaxial polydactyly type A Postaxial polydactyly type B Postaxial tetramelic oligodactyly Prader-Willi syndrome Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to translocation Preaxial polydactyly of fingers Preaxial polydactyly of toes Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes, unilateral Preaxial polydactyly-colobomata-intellectual disability syndrome Premature chromosome condensation with microcephaly and intellectual disability Prenatal benign hypophosphatasia Primary avascular necrosis Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal components Primary bone dysplasia with increased bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary hypertrophic osteoarthropathy Primary intraosseous venous malformation Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary non-essential cutis verticis gyrata Primary osteolysis Progressive non-infectious anterior vertebral fusion Progressive osseous heteroplasia Progressive pseudorheumatoid arthropathy of childhood Prominent glabella-microcephaly-hypogenitalism syndrome Proximal 16p11.2 microduplication syndrome Proximal Xq28 duplication syndrome Proximal symphalangism Pseudoachondroplasia Pseudoaminopterin syndrome Pseudodiastrophic dysplasia Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1C Pseudoprogeria syndrome Pseudopseudohypoparathyroidism Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase deficiency Pyruvate dehydrogenase phosphatase deficiency Qazi-Markouizos syndrome RAPADILINO syndrome RFT1-CDG Radial deficiency-tibial hypoplasia syndrome Radial hemimelia Radial hemimelia, bilateral Radial hemimelia, unilateral Radio-renal syndrome Radio-ulnar synostosis, bilateral Radio-ulnar synostosis, unilateral Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome Ramon syndrome Ramos-Arroyo syndrome Rare bone disease Rare chromosomal anomaly Rare circulatory system disease Rare developmental defect during embryogenesis Rare endocrine disease Rare genetic bone development disorder Rare genetic disease Rare gynecologic or obstetric disease Rare infertility Rare neoplastic disease Rare otorhinolaryngologic disease Rare skin disease Rare sucking/swallowing disorder Rare surgical thoracic disease Rare syndromic intellectual disability Rare systemic or rheumatologic disease Rare urogenital disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Renier-Gabreels-Jasper syndrome Renpenning syndrome Rett syndrome Reunion Island Larsen-like syndrome Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 Rhizomelic dysplasia, Patterson-Lowry type Rhizomelic syndrome, Urbach type Richieri Costa-da Silva syndrome Ring chromosome 10 syndrome Roberts syndrome Robinow syndrome Roifman syndrome Rolandic epilepsy-speech dyspraxia syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Ruvalcaba syndrome S-adenosylhomocysteine hydrolase deficiency SCARF syndrome SHOX-related short stature SLC35A1-CDG SLC35A2-CDG SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome SPECC1L-related hypertelorism syndrome SPONASTRIME dysplasia SRD5A3-CDG STT3A-CDG STT3B-CDG Saethre-Chotzen syndrome Sagliker syndrome Saldino-Mainzer syndrome Salt-and-pepper syndrome Sanjad-Sakati syndrome Say-Barber-Miller syndrome Say-Field-Coldwell syndrome Scalp defects-postaxial polydactyly syndrome Scheuermann's disease Schimke immuno-osseous dysplasia Schinzel-Giedion syndrome Schneckenbecken dysplasia Schwartz-Jampel syndrome Sclerosteosis Seckel syndrome Secondary avascular necrosis Secondary non-traumatic avascular necrosis Semilobar holoprosencephaly Septopreoptic holoprosencephaly Severe X-linked intellectual disability, Gustavson type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Sheldon-Hall syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Shoulder and girdle defects-familial intellectual disability syndrome Shoulder and thorax deformity-congenital heart disease syndrome Shprintzen-Goldberg syndrome Shwachman-Diamond syndrome Sialidosis type 2 Sillence syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 2 Sinding-Larsen-Johansson disease Singleton-Merten dysplasia Sirenomelia Skeletal dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy syndrome Spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-epilepsy-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Splenogonadal fusion-limb defects-micrognathia syndrome Split foot Split hand Split hand or/and split foot malformation Split hand-split foot-deafness syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Spondylo-ocular syndrome Spondylocamptodactyly syndrome Spondylocarpotarsal synostosis Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondylodysplastic dysplasia Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia with metatarsal shortening Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondyloperipheral dysplasia-short ulna syndrome Sporadic infantile bilateral striatal necrosis Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stüve-Wiedemann syndrome Sub-cortical nodular heterotopia Subependymal nodular heterotopia Summitt syndrome Symbrachydactyly of hand and foot, bilateral Symbrachydactyly of hand and foot, unilateral Symbrachydactyly of hands and feet Symphalangism with multiple anomalies of hands and feet Syndactyly type 1 Syndactyly type 2 Syndactyly type 3 Syndactyly type 4 Syndactyly type 5 Syndactyly type 6 Syndactyly type 8 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Syndactyly-polydactyly-ear lobe syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Syndrome with limb malformations as a major feature Syndrome with limb reduction defects Syndrome with synostosis or other joint formation defect Syndromic X-linked intellectual disability 7 Syndromic craniosynostosis Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic neurometabolic disease with X-linked intellectual disability Syndromic neurometabolic disease with non-X-linked intellectual disability Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome TMEM165-CDG Tall stature-long halluces-multiple extra-epiphyses syndrome Talo-patello-scaphoid osteolysis Tarsal-carpal coalition syndrome Tatton-Brown-Rahman syndrome Teebi-Shaltout syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temtamy preaxial brachydactyly syndrome Temtamy syndrome Terminal limb defects Terminal osseous dysplasia-pigmentary defects syndrome Terminal transverse defects of arm Tetra-amelia Tetraamelia-multiple malformations syndrome Tetramelic monodactyly Thalidomide embryopathy Thanatophoric dysplasia Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thiemann disease, familial form Thin ribs-tubular bones-dysmorphism syndrome Thoracolaryngopelvic dysplasia Thoracomelic dysplasia Thrombocythemia with distal limb defects Thrombocytopenia-absent radius syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Tibial aplasia-ectrodactyly syndrome Tibial hemimelia Tibial hemimelia, bilateral Tibial hemimelia, unilateral Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Tibio-fibular synostosis Torg-Winchester syndrome Townes-Brocks syndrome Transverse limb deficiency-hemangioma syndrome Traumatic avascular necrosis Treacher-Collins syndrome Tricho-dento-osseous syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Trismus-pseudocamptodactyly syndrome True congenital shoulder dislocation Tuberous sclerosis complex Turner syndrome Turner syndrome due to structural X chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hemimelia, bilateral Ulnar hemimelia, unilateral Ulnar hypoplasia-split foot syndrome Ulnar-mammary syndrome Ulnar/fibula ray defect-brachydactyly syndrome Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral polymicrogyria Upington disease Upper limb defect-eye and ear abnormalities syndrome Upper limb hypertrophy Upper limb mesomelic dysplasia Urban-Rogers-Meyer syndrome Uveal coloboma-cleft lip and palate-intellectual disability VACTERL with hydrocephalus Van den Bosch syndrome Van den Ende-Gupta syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome W syndrome Walker-Warburg syndrome Weaver syndrome Weill-Marchesani syndrome Weismann-Netter syndrome Weissenbacher-Zweymuller syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Wiedemann-Rautenstrauch syndrome Wildervanck syndrome Williams syndrome Wilson-Turner syndrome Wolcott-Rallison syndrome Woodhouse-Sakati syndrome Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Wrinkly skin syndrome X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 6 X-linked Opitz G/BBB syndrome X-linked calvarial hyperostosis X-linked centronuclear myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral-cerebellar-coloboma syndrome X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia type 1 X-linked congenital disorder of glycosylation with intellectual disability as a major feature X-linked creatine transporter deficiency X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant intellectual disability-epilepsy syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability, Abidi type X-linked intellectual disability, Armfield type X-linked intellectual disability, Brooks type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cantagrel type X-linked intellectual disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, Porteous type X-linked intellectual disability, Schimke type X-linked intellectual disability, Seemanova type X-linked intellectual disability, Shashi type X-linked intellectual disability, Shrimpton type X-linked intellectual disability, Siderius type X-linked intellectual disability, Snyder type X-linked intellectual disability, Stevenson type X-linked intellectual disability, Stocco Dos Santos type X-linked intellectual disability, Stoll type X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Turner type X-linked intellectual disability, Van Esch type X-linked intellectual disability, Vitale type X-linked intellectual disability, Wilson type X-linked intellectual disability, Wittwer type X-linked intellectual disability, Zorick type X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome X-linked intellectual disability-epilepsy syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-spastic quadriparesis syndrome X-linked lethal multiple pterygium syndrome X-linked lissencephaly with abnormal genitalia X-linked mandibulofacial dysostosis X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Hamel type X-linked osteoporosis with fractures X-linked progressive cerebellar ataxia X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome X-linked skeletal dysplasia-intellectual disability syndrome X-linked spasticity-intellectual disability-epilepsy syndrome X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked syndromic intellectual disability XYLT1-CDG Xeroderma pigmentosum-Cockayne syndrome complex Xp22.13p22.2 duplication syndrome Yunis-Varon syndrome Zechi-Ceide syndrome Zellweger-like syndrome without peroxisomal anomalies Zimmermann-Laband syndrome Zygodactyly type 1 Zygodactyly type 2 Zygodactyly type 3 Zygodactyly type 4