pontocerebellar hypoplasia type 11

Term ID

DOID:0112324

Synonyms

• PCH11

Definition

A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/28823706/

References

• OMIM:617695
• ORDO:611247

Ontology

Human Disease   ( DOID:0112324 )