NINDS Cerebellar Hypoplasia Information Page
Skip secondary menu
Home
Disorders A - Z ...
Pontocerebellar Hypoplasia Causes, Symptoms and Treatment and Related Disorders ...
Pontocerebellar Hypoplasia
National Organization for Rare Disorders, Inc.
Synonyms ...
Pontocerebellar hypoplasia
Related Gene(s)
References
Quick links to this topic MedlinePlus Health information Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For ...
Cerebellar hypoplasia ... delayed development, mental retardation
Cerebellar hypoplasia -- endosteal sclerosis ... developmental delay, short stature, retarded growth, retarded growth, underdeveloped cerebellum ...
Cerebellar Hypoplasia
Cerebello-Oculocutaneous Telangiectasia
Cerebellomedullary Malformation Syndrome
cerebellooculorenal syndrome 1; CORS1
cerebelloparenchchymal disorder IV familial
Cerebral Arachnoiditis ...
An association of pancerebellar hypoplasia and ventral pontine hypoplasia known as pontocerebellar hypoplasia is found in several disorders with distinct Mendelian inheritance.
Ataxia telangiectasia mutated (ATM)
Cerebellar Hypoplasia
Ataxias and Cerebellar or Spinocerebellar Degeneration
Lymphocytopenia
Immune Deficiencies ...
Intracranial anomalies include callosal hypogenesis (Fig.1) (typically associated with interhemispheric cysts), grey matter heterotopia, cortical dysplasia, posterior fossa cysts, cerebellar hypoplasia, choroid plexus papillomas, and microphthalmia.
Definitions:
1. developmental anomaly of the fourth ventricle associated with atresia of the foramina of Luschka and Magendie that results in cerebellar hypoplasia, hydrocephalus, and posterior fossa cyst formation.
 See also: Symptom, Atrophy, Mental retardation, Seizure, Autosomal recessive
  
|
RSS
