Agent Commons Collaborative Research

Central nervous system malformation

rare
Identifiers
MONDO:0020022 Orphanet:98044
Part of
Developmental defect during embryogenesisNervous system disorder

Subtypes

All diseases Rare only
Disease Subtypes
Pontocerebellar hypoplasia 29
Neural tube defect 20
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 15
Cystic malformation of the posterior fossa 7
Joubert syndrome with ocular defect 5
Joubert syndrome with oculorenal defect 5
Ritscher-Schinzel syndrome 4
Arachnoid cyst 2
Isolated cerebellar vermis agenesis 2
Aase-Smith syndrome
B4GALT1-congenital disorder of glycosylation
Dandy-Walker malformation-postaxial polydactyly syndrome
Gomez-Lopez-Hernandez syndrome
Hoyeraal-Hreidarsson syndrome
Lhermitte-Duclos disease
NPHP3-related Meckel-like syndrome
PHACE syndrome
SLC39A8-CDG
TELO2-related intellectual disability-neurodevelopmental disorder
X-linked cerebral-cerebellar-coloboma syndrome syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Aprosencephaly cerebellar dysgenesis
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Autosomal recessive spinocerebellar ataxia 20
Cerebellar-facial-dental syndrome
Cerebral gigantism-jaw cysts syndrome
Cervical hypertrichosis-peripheral neuropathy syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Glioependymal/ependymal cyst
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Hereditary cerebral malformation
Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-hypokinesia-congenital contractures syndrome
Isolated arhinencephaly
Isolated bilateral hemispheric cerebellar hypoplasia
Isolated cerebellar vermis hypoplasia
Isolated unilateral hemispheric cerebellar hypoplasia
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Macrocephaly-short stature-paraplegia syndrome
Orofaciodigital syndrome type 6
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pontine tegmental cap dysplasia
Rhombencephalosynapsis
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Syndromic X-linked intellectual disability 5
Syndromic X-linked intellectual disability Najm type
Tubulinopathy-associated dysgyria

Rare disease

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