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pontocerebellar hypoplasia type 2B

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
Uniprot Description A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.
Disease Ontology Description A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
Mondo Term and Equivalent IDs
MONDO:0012890:  pontocerebellar hypoplasia type 2B
MESH:C567325: 
UMLS:C2676466: