pontocerebellar hypoplasia type 3

Term ID

DOID:0060272

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/19277761/

References

• GARD:10708
• MESH:C548072
• MIM:608027
• ORDO:97249
• SNOMEDCT_US_2023_03_01:718609003
• UMLS_CUI:C1842687

Ontology

Human Disease   ( DOID:0060272 )