SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
11q22.2q22.3 microdeletion syndrome 12q14 microdeletion syndrome 13q12.3 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 microduplication syndrome 15q24 microdeletion syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 17p11.2 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 1p21.3 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2-aminoadipic 2-oxoadipic aciduria 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 22q11.2 deletion syndrome 2p13.2 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q24 microdeletion syndrome 3-methylglutaconic aciduria type 7 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 3-phosphoserine phosphatase deficiency, infantile/juvenile form 3C syndrome 3MC syndrome 3p25.3 microdeletion syndrome 3q27.3 microdeletion syndrome 47,XYY syndrome 48,XXYY syndrome 5p13 microduplication syndrome 5q14.3 microdeletion syndrome 6q terminal deletion syndrome 7q31 microdeletion syndrome 8p23.1 duplication syndrome 8q21.11 microdeletion syndrome 9p13 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome 9q33.3q34.11 microdeletion syndrome ADNP syndrome AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome AICA-ribosiduria ANE syndrome ANK3-related intellectual disability-sleep disturbance syndrome Achondroplasia Acrocallosal syndrome Acrocardiofacial syndrome Acrofacial dysostosis, Catania type Acrofacial dysostosis, Rodríguez type Adenylosuccinate lyase deficiency Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agnathia-holoprosencephaly-situs inversus syndrome Aicardi-Goutières syndrome Alacrimia-choreoathetosis-liver dysfunction syndrome Alagille syndrome due to a NOTCH2 point mutation Allan-Herndon-Dudley syndrome Alobar holoprosencephaly Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Alström syndrome Alternating hemiplegia of childhood 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 Aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia-renal agenesis-psychomotor retardation syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Atelosteogenesis type II Atelosteogenesis type III Atypical Rett syndrome Atypical autism Autism spectrum disorder due to AUTS2 deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2O Autosomal dominant Charcot-Marie-Tooth disease type 2Z Autosomal dominant dopa-responsive dystonia Autosomal dominant epilepsy with auditory features Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Autosomal dominant non-syndromic intellectual disability Autosomal dominant spastic paraplegia type 8 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive non-syndromic intellectual disability Autosomal recessive primary microcephaly Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 77 Autosomal recessive spastic paraplegia type 9B Axenfeld-Rieger syndrome Aymé-Gripp syndrome Bainbridge-Ropers syndrome Bannayan-Riley-Ruvalcaba syndrome Baraitser-Winter cerebrofrontofacial syndrome Bardet-Biedl syndrome Barth syndrome Basel-Vanagaite-Smirin-Yosef syndrome Beckwith-Wiedemann syndrome Beta-propeller protein-associated neurodegeneration Biemond syndrome type 2 Bilateral generalized polymicrogyria Biotin-thiamine-responsive basal ganglia disease Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome Blepharophimosis-intellectual disability syndrome, MKB type Blepharophimosis-intellectual disability syndrome, SBBYS type Bohring-Opitz syndrome Bonnemann-Meinecke-Reich syndrome Bowen-Conradi syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome Branchioskeletogenital syndrome C syndrome C12ORF65-related combined oxidative phosphorylation defect CEDNIK syndrome CHARGE syndrome CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome COFS syndrome CTCF-related neurodevelopmental disorder Camptodactyly syndrome, Guadalajara type 3 Cantú syndrome Cardiocranial syndrome, Pfeiffer type Cardiofaciocutaneous syndrome 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 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar-facial-dental syndrome Cerebrooculonasal syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Childhood absence epilepsy Chudley-McCullough syndrome Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion Cleft palate-short stature-vertebral anomalies syndrome Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Coffin-Siris syndrome Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Cohen syndrome Combined oxidative phosphorylation defect type 23 Combined oxidative phosphorylation defect type 27 Combined oxidative phosphorylation defect type 7 Complex lethal osteochondrodysplasia Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital communicating hydrocephalus Congenital contractural arachnodactyly Congenital heart defect-round face-developmental delay syndrome Congenital insensitivity to pain with severe intellectual disability Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Congenital non-communicating hydrocephalus Cono-spondylar dysplasia Contractures-ectodermal dysplasia-cleft lip/palate syndrome Cornelia de Lange syndrome Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Cortical blindness-intellectual disability-polydactyly syndrome Costello syndrome Crane-Heise syndrome Craniodigital-intellectual disability syndrome Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Crouzon syndrome-acanthosis nigricans syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome Czeizel-Losonci syndrome DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy DYRK1A-related intellectual disability syndrome DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-onychodystrophy syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Developmental and speech delay due to SOX5 deficiency Developmental delay with autism spectrum disorder and gait instability Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Diastrophic dysplasia Difference of sex development-intellectual disability syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal monosomy 7q36 Distal nebulin myopathy Down syndrome Dravet syndrome Dubowitz syndrome Dysequilibrium syndrome Dysmorphism-short stature-deafness-difference of sex development syndrome Early infantile epileptic encephalopathy Early-onset epilepsy-intellectual disability-brain anomalies syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-telangiectasia syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Episodic ataxia type 1 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FOXP1 Syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial paroxysmal ataxia Familial porencephaly Fatty acyl-CoA reductase 1 deficiency Filippi syndrome Floating-Harbor syndrome Fountain syndrome Freeman-Sheldon syndrome Fryns syndrome GAPO syndrome GMS syndrome GNAO1-related developmental delay-seizures-movement disorder spectrum GNB5-related intellectual disability-cardiac arrhythmia syndrome GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Galloway-Mowat syndrome Genitopatellar syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Goldberg-Shprintzen megacolon syndrome Grubben-de Cock-Borghgraef syndrome Gómez-López-Hernández syndrome HANAC syndrome Hair defect-photosensitivity-intellectual disability syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Harrod syndrome Hartsfield syndrome Hennekam syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary cryohydrocytosis with reduced stomatin Hernández-Aguirre Negrete syndrome Hirsutism-skeletal dysplasia-intellectual disability syndrome Holoprosencephaly Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Hyperphosphatasia-intellectual disability syndrome Hypertelorism-microtia-facial clefting syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination-congenital cataract syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Infantile bilateral striatal necrosis Infantile choroidocerebral calcification syndrome Infantile spasms syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Intellectual disability syndrome due to a DYRK1A point mutation 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-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-epilepsy-extrapyramidal syndrome Intellectual disability-expressive aphasia-facial dysmorphism 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-macrocephaly-hypotonia-behavioral abnormalities syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism 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 Inverted duplicated chromosome 15 syndrome Isolated anencephaly/exencephaly Isolated childhood apraxia of speech Isolated congenital auditory ossicle malformation Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Joubert syndrome Joubert syndrome with oculorenal defect Juvenile myoclonic epilepsy KBG syndrome KDM5C-related syndromic X-linked intellectual disability Kabuki syndrome Kagami-Ogata syndrome Kapur-Toriello syndrome Keppen-Lubinsky syndrome Keutel syndrome Kleefstra syndrome Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation Koolen-De Vries syndrome L1 syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Larsen syndrome Laurence-Moon syndrome Lennox-Gastaut syndrome Lenz-Majewski hyperostotic dwarfism Lethal omphalocele-cleft palate syndrome Lissencephaly Lobar holoprosencephaly Lowry-MacLean syndrome MEDNIK syndrome MEND syndrome MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect MMEP syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Malan overgrowth syndrome Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Malignant migrating focal seizures of infancy Mandibulofacial dysostosis-microcephaly syndrome Marden-Walker syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome McDonough syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megalocornea-intellectual disability syndrome Menke-Hennekam syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Micro syndrome Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic primordial dwarfism Microcephalic primordial dwarfism, Montreal type Microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Microcephaly-deafness-intellectual disability syndrome Microcephaly-glomerulonephritis-marfanoid habitus syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Microcephaly-microcornea syndrome, Seemanova type Microcephaly-micromelia syndrome 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 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Microlissencephaly-micromelia syndrome Microphthalmia-brain atrophy syndrome Middle and/or inner ear anomaly Midline interhemispheric variant of holoprosencephaly Mitochondrial oxidative phosphorylation disorder Monosomy 18p Monosomy 22q13.3 Monosomy 5p Mowat-Wilson syndrome Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to monosomy 2q22 Moynahan syndrome Myhre syndrome Myoclonic-astatic epilepsy Myopathy-growth delay-intellectual disability-hypospadias syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Neuroectodermal-endocrine syndrome Neurofaciodigitorenal syndrome Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurofibromatosis-Noonan syndrome Nicolaides-Baraitser syndrome Nodular neuronal heterotopia Non-specific early-onset epileptic encephalopathy Non-specific syndromic intellectual disability Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Oculo-palato-cerebral syndrome Oculocerebrofacial syndrome, Kaufman type Okamoto syndrome Oliver syndrome Omphalocele syndrome, Shprintzen-Goldberg type Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Optic atrophy-intellectual disability syndrome Orofaciodigital syndrome type 10 Orofaciodigital syndrome type 14 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 Ossification anomalies-psychomotor developmental delay syndrome Osteopathia striata-cranial sclerosis syndrome Osteopenia-intellectual disability-sparse hair syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis with renal tubular acidosis Osteoporosis-pseudoglioma syndrome PCNA-related progressive neurodegenerative photosensitivity syndrome PDE4D haploinsufficiency syndrome PGM3-CDG PMP22-RAI1 contiguous gene duplication syndrome PYCR2-related microcephaly-progressive leukoencephalopathy Pachygyria-intellectual disability-epilepsy syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Partial deletion of the long arm of chromosome 1 Partial deletion of the short arm of chromosome 9 Partial duplication of the short arm of chromosome 10 Partial duplication/triplication of the short arm of chromosome 12 Periventricular nodular heterotopia Pfeiffer-Palm-Teller syndrome Phosphoserine aminotransferase deficiency, infantile/juvenile form Pierpont syndrome Pitt-Hopkins syndrome Pitt-Hopkins-like syndrome Polyendocrine-polyneuropathy syndrome Polymicrogyria Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Pontine autosomal dominant microangiopathy with leukoencephalopathy Porencephaly Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary non-essential cutis verticis gyrata Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Prolidase deficiency Prominent glabella-microcephaly-hypogenitalism syndrome Proximal 16p11.2 microdeletion syndrome Proximal 16p11.2 microduplication syndrome Pseudoprogeria syndrome Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pyridoxal phosphate-responsive seizures Pyridoxine-dependent epilepsy Qazi-Markouizos syndrome RARS-related autosomal recessive hypomyelinating leukodystrophy RERE-related neurodevelopmental syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome Ramos-Arroyo syndrome Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Rare genetic intellectual disability Rare genetic syndromic intellectual disability Rare non-syndromic intellectual disability Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Rett syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations S-adenosylhomocysteine hydrolase deficiency SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome SLC35A2-CDG SLC39A8-CDG SMARCA2-related blepharophimosis-intellectual disability syndrome STXBP1-related encephalopathy SYNGAP1-related developmental and epileptic encephalopathy Sanjad-Sakati syndrome Say-Barber-Miller syndrome Seizures-scoliosis-macrocephaly syndrome Semilobar holoprosencephaly Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Shoulder and girdle defects-familial intellectual disability syndrome Shprintzen-Goldberg syndrome Sialuria Silver-Russell syndrome Simpson-Golabi-Behmel syndrome Sinoatrial node dysfunction and deafness Skeletal dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Solitary median maxillary central incisor syndrome Sotos syndrome Spastic paraplegia type 7 Spastic paraplegia-epilepsy-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Spinocerebellar ataxia type 6 Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Stimmler syndrome Sturge-Weber syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic neurometabolic disease with non-X-linked intellectual disability TBCK-related intellectual disability syndrome TELO2-related intellectual disability-neurodevelopmental disorder THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Tatton-Brown-Rahman 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 Temple-Baraitser syndrome Temtamy syndrome Transketolase deficiency Treacher-Collins syndrome Trisomy 1q Ulbright-Hodes syndrome Upper limb defect-eye and ear abnormalities syndrome Urban-Rogers-Meyer syndrome Usher syndrome type 1 Usher syndrome type 2 Uveal coloboma-cleft lip and palate-intellectual disability VPS11-related autosomal recessive hypomyelinating leukodystrophy Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome Waardenburg-Shah syndrome Weaver syndrome Weaver-Williams syndrome Weiss-Kruszka Syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White-Sutton syndrome Wiedemann-Rautenstrauch syndrome Wiedemann-Steiner syndrome Williams syndrome Witteveen-Kolk syndrome Wolf-Hirschhorn syndrome Woodhouse-Sakati syndrome X-linked creatine transporter deficiency X-linked intellectual disability, Cabezas type X-linked intellectual disability, Stocco Dos Santos type X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked non-syndromic intellectual disability X-linked syndromic intellectual disability Xeroderma pigmentosum-Cockayne syndrome complex Xp22.13p22.2 duplication syndrome Zechi-Ceide syndrome Zimmermann-Laband syndrome