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pontocerebellar hypoplasia type 2D

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 SEPSECS gene.
Uniprot Description A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures.
Disease Ontology Description A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
Mondo Term and Equivalent IDs
MONDO:0013438:  pontocerebellar hypoplasia type 2D
UMLS:C3151140: