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pontocerebellar hypoplasia type 1

Disease Summary
Associated Targets (5)
Tbio

5


Explore Associated Targets
Mondo Description Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Mondo Term and Equivalent IDs
MONDO:0016396:  pontocerebellar hypoplasia type 1
GARD:0010704: 
MESH:C548069: 
Orphanet:2254: 
SCTID:718610008: 
UMLS:C1843504: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found