pontocerebellar hypoplasia type 14

Term ID

DOID:0112325

Synonyms

• PCH14

Definition

A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. https://pubmed.ncbi.nlm.nih.gov/33220177/

References

• OMIM:619301

Ontology

Human Disease   ( DOID:0112325 )