Central nervous system malformation

Part of

Sub-types of Central nervous system malformation

• Neural tube defect 12 trials · 23 incl. sub-types
  12 sub-types

  • Chiari malformation type I 9 trials
  • Primary tethered cord syndrome 2 trials
  • Caudal regression sequence 1 trial
  • Diastematomyelia 0 trials
  • Iniencephaly 0 trials Sub-types →
  • Isolated amyelia 0 trials
  • Lateral meningocele syndrome 0 trials
  • Leptomyelolipoma 0 trials
  • Lipomyelomeningocele 0 trials
  • Neurenteric cyst 0 trials
  • Parietal foramina 0 trials Sub-types →
  • Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 0 trials
• Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 trials · 10 incl. sub-types
  5 sub-types

  • Isolated focal cortical dysplasia 5 trials · 6 incl. sub-types Sub-types →
  • Megalencephaly-capillary malformation-polymicrogyria syndrome 3 trials
  • Hemimegalencephaly 2 trials
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 0 trials Sub-types →
• Hoyeraal-Hreidarsson syndrome 3 trials
• Pontocerebellar hypoplasia 1 trial · 3 incl. sub-types
  21 sub-types

  • Pontocerebellar hypoplasia type 6 2 trials
  • Pontocerebellar hypoplasia type 1 0 trials Sub-types →
  • Pontocerebellar hypoplasia type 10 0 trials
  • Pontocerebellar hypoplasia type 2 0 trials Sub-types →
  • Pontocerebellar hypoplasia type 2E 0 trials
  • Pontocerebellar hypoplasia type 3 0 trials
  • Pontocerebellar hypoplasia type 4 0 trials
  • Pontocerebellar hypoplasia type 5 0 trials
  • Pontocerebellar hypoplasia type 7 0 trials
  • Pontocerebellar hypoplasia type 8 0 trials
  • Pontocerebellar hypoplasia type 9 0 trials
  • Pontocerebellar hypoplasia, IIA 17 0 trials
  • Pontocerebellar hypoplasia, type 11 0 trials
  • Pontocerebellar hypoplasia, type 12 0 trials
  • Pontocerebellar hypoplasia, type 13 0 trials
  • Pontocerebellar hypoplasia, type 14 0 trials
  • Pontocerebellar hypoplasia, type 15 0 trials
  • Pontocerebellar hypoplasia, type 16 0 trials
  • Pontocerebellar hypoplasia, type 1D 0 trials
  • Pontocerebellar hypoplasia, type 1E 0 trials
  • Pontocerebellar hypoplasia, type 1F 0 trials
• Lhermitte-Duclos disease 2 trials
• PHACE syndrome 2 trials
• Joubert syndrome with oculorenal defect 1 trial
  5 sub-types

  • Joubert syndrome 14 0 trials
  • Joubert syndrome 16 0 trials
  • Joubert syndrome 2 0 trials
  • Joubert syndrome 5 0 trials
  • Joubert syndrome 9 0 trials
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
• Syndromic X-linked intellectual disability 5 1 trial
• Cystic malformation of the posterior fossa 0 trials · 1 incl. sub-types
  4 sub-types

  • Dandy-Walker syndrome 1 trial Sub-types →
  • Blake pouch cyst 0 trials
  • Mega-cisterna magna 0 trials
  • Retrocerebellar cyst 0 trials
• Aase-Smith syndrome 0 trials
• B4GALT1-congenital disorder of glycosylation 0 trials
• Dandy-Walker malformation-postaxial polydactyly syndrome 0 trials
• Gomez-Lopez-Hernandez syndrome 0 trials
• Joubert syndrome with ocular defect 0 trials
  5 sub-types

  • Joubert syndrome 14 0 trials
  • Joubert syndrome 15 0 trials
  • Joubert syndrome 20 0 trials
  • Joubert syndrome 28 0 trials
  • Joubert syndrome 3 0 trials
• NPHP3-related Meckel-like syndrome 0 trials
• Ritscher-Schinzel syndrome 0 trials
  4 sub-types

  • Ritscher-Schinzel syndrome 1 0 trials
  • Ritscher-Schinzel syndrome 2 0 trials
  • Ritscher-Schinzel syndrome 3 0 trials
  • Ritscher-Schinzel syndrome 4 0 trials
• SLC39A8-CDG 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• X-linked cerebral-cerebellar-coloboma syndrome syndrome 0 trials
• X-linked intellectual disability-cerebellar hypoplasia syndrome 0 trials
• X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
• Aprosencephaly cerebellar dysgenesis 0 trials
• Arachnoid cyst 0 trials
  2 sub-types

  • Intracranial arachoid cyst 0 trials
  • Spinal intradural arachnoid cysts 0 trials
• Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 trials
• Autosomal recessive spinocerebellar ataxia 20 0 trials
• Cerebellar-facial-dental syndrome 0 trials
• Cerebral gigantism-jaw cysts syndrome 0 trials
• Cervical hypertrichosis-peripheral neuropathy syndrome 0 trials
• Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
• Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 0 trials
• Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
• Glioependymal/ependymal cyst 0 trials
• Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
• Hereditary cerebral malformation 0 trials
• Holoprosencephaly-caudal dysgenesis syndrome 0 trials
• Holoprosencephaly-hypokinesia-congenital contractures syndrome 0 trials
• Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
• Isolated arhinencephaly 0 trials
• Isolated bilateral hemispheric cerebellar hypoplasia 0 trials
• Isolated cerebellar vermis agenesis 0 trials
  2 sub-types

  • Isolated partial cerebellar vermis agenesis 0 trials
  • Isolated total cerebellar vermis agenesis 0 trials
• Isolated cerebellar vermis hypoplasia 0 trials
• Isolated unilateral hemispheric cerebellar hypoplasia 0 trials
• Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
• Macrocephaly-short stature-paraplegia syndrome 0 trials
• Orofaciodigital syndrome type 6 0 trials
• Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 0 trials
• Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
• Pontine tegmental cap dysplasia 0 trials
• Rhombencephalosynapsis 0 trials
• Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
• Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 0 trials
• Syndromic X-linked intellectual disability Najm type 0 trials
• Tubulinopathy-associated dysgyria 0 trials