ZFIN Human Disease: pontocerebellar hypoplasia type 16

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 the MINPP1 gene on chromosome 10q23.2. (2)
References:	OMIM:619527
Ontology:	Human Disease ( DOID:0112333 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia autosomal recessive disease pontocerebellar hypoplasia Show first 5 Terms

OTHER pontocerebellar hypoplasia type 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MINPP1	minpp1b minpp1a	Pontocerebellar hypoplasia, type 16	619527

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None