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pontocerebellar hypoplasia type 2

Disease Summary
Associated Targets (5)
Tbio

4

Tdark

1


Explore Associated Targets
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0016759:  pontocerebellar hypoplasia type 2
GARD:0010705: 
MESH:C548070: 
NCIT:C124057: 
Orphanet:2524: 
SCTID:715463008: 
UMLS:C2932714: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found