Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München Assigned 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