|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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. (Orphanet Rare Disease Ontology, Orphanet_2254)|
|Downloads & Tools|
2 genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 1 from the curated CTD Gene-Disease Associations dataset.