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DOID:0060270 - pontocerebellar hypoplasia type 2D
Disease Ontology Definition: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.
Synonyms:
Echinobase Genes
:
sepsecs
| MIM:613811 - pontocerebellar hypoplasia, type 2d; pch2d |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
pontocerebellar hypoplasia (is_a),
pontocerebellar hypoplasia type 2 (is_a)