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pontocerebellar hypoplasia type 6

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
Uniprot Description A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
Mondo Term and Equivalent IDs
MONDO:0012683:  pontocerebellar hypoplasia type 6
GARD:0010710: 
MESH:C548074: 
Orphanet:166073: 
SCTID:718606005: 
UMLS:C1969084: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)