Rare genetic syndromic intellectual disability
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This is just here as a test because I lose it
Term information
Term relations
Related from:
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- GMS syndrome
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Pierpont syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Microlissencephaly-micromelia syndrome
- Lipodystrophy-intellectual disability-deafness syndrome
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Cleft palate-short stature-vertebral anomalies syndrome
- Acrocardiofacial syndrome
- WARS2-related combined oxidative phosphorylation defect
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Galloway-Mowat syndrome
- GAPO syndrome
- Fryns syndrome
- Fryns-Smeets-Thiry syndrome
- Floating-Harbor syndrome
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Ulbright-Hodes syndrome
- Urban-Rogers-Meyer syndrome
- Harrod syndrome
- Weaver syndrome
- Hartsfield syndrome
- Weaver-Williams syndrome
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- MMEP syndrome
- Hall-Riggs syndrome
- Hallermann-Streiff syndrome
- Hallermann-Streiff-like syndrome
- Grubben-de Cock-Borghgraef syndrome
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
- Mowat-Wilson syndrome
- Nodular neuronal heterotopia
- Zimmermann-Laband syndrome
- Serine biosynthesis pathway deficiency, infantile/juvenile form
- Hennekam syndrome
- Hernández-Aguirre Negrete syndrome
- Woodhouse-Sakati syndrome
- West syndrome
- Wiedemann-Rautenstrauch syndrome
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- Holoprosencephaly
- Holoprosencephaly-postaxial polydactyly syndrome
- Stimmler syndrome
- Holoprosencephaly-radial heart renal anomalies syndrome
- Spinocerebellar degeneration-corneal dystrophy syndrome
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- 8q24.3 microdeletion syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- PLAA-associated neurodevelopmental disorder
- Dystonia-parkinsonism-hypermanganesemia syndrome
- 16p12.1p12.3 triplication syndrome
- Bohring-Opitz syndrome
- Richieri Costa-da Silva syndrome
- Omphalocele syndrome, Shprintzen-Goldberg type
- Optic atrophy-intellectual disability syndrome
- Say-Barber-Miller syndrome
- SYNGAP1-related developmental and epileptic encephalopathy
- Koolen-De Vries syndrome
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- 5p13 microduplication syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Xeroderma pigmentosum-Cockayne syndrome complex
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Fountain syndrome
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Filippi syndrome
- 12q14 microdeletion syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Macrocephaly-intellectual disability-autism syndrome
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
- Transketolase deficiency
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Micro syndrome
- Microbrachycephaly-ptosis-cleft lip syndrome
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Microcephaly-cardiomyopathy syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- TBCK-related intellectual disability syndrome
- TELO2-related intellectual disability-neurodevelopmental disorder
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Czeizel-Losonci syndrome
- Macrocephaly-short stature-paraplegia syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Lowry-MacLean syndrome
- Megalocornea-intellectual disability syndrome