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pontocerebellar hypoplasia type 3

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Uniprot Description A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.
Mondo Term and Equivalent IDs
MONDO:0011948:  pontocerebellar hypoplasia type 3
GARD:0010708: 
MESH:C548072: 
Orphanet:97249: 
SCTID:718609003: 
UMLS:C1842687: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)