Disease association ontology term - MONDO:0020135 - pontocerebellar hypoplasia

Term summary

ID

MONDO:0020135

Name

pontocerebellar hypoplasia

Ontology or CV name

Disease association

Definition

Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.

Parents

• is_a central nervous system malformation
• is_a hereditary neurological disease

Annotation