pontocerebellar hypoplasia type 16

Term ID

DOID:0112333

Synonyms

• PCH16

Definition

A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. (2)

References

• OMIM:619527

Ontology

Human Disease   ( DOID:0112333 )