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DOID:0060272 - pontocerebellar hypoplasia type 3
Disease Ontology Definition: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.
Synonyms:
Xenbase Genes
:
pclo
| MONDO:0011948 - pontocerebellar hypoplasia type 3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
pontocerebellar hypoplasia (is_a)