OBO ID: DOID:0112333
Term Name: pontocerebellar hypoplasia type 16 Search Ontology:
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 MINPP1 on chromosome 10q23.2. (2)
References:
Ontology: Human Disease   (DOID:0112333)
OTHER pontocerebellar hypoplasia type 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MINPP1 Pontocerebellar hypoplasia, type 16 619527
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None