Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 2
Definition
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Also known as PCH2 — per MONDO
Also identified as
- DOID 0112328 per MONDO
- MESH C548070 per MONDO
- NCIT C124057 per MONDO
- Orphanet 2524 per MONDO
- SCTID 715463008 per MONDO
- UMLS C2932714 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Brain | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Brain | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |