ZFIN Human Disease: pontocerebellar hypoplasia type 2D

OBO ID: DOID:0060270

Term Name:	pontocerebellar hypoplasia type 2D		Search Ontology:
Synonyms:
Definition:	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. https://www.omim.org/entry/613811
References:	ICD10CM:Q04.3 OMIM:613811 ORDO:2524
Ontology:	Human Disease ( DOID:0060270 )

Relationships

is a type of:	autosomal recessive disease pontocerebellar hypoplasia type 2 autosomal recessive disease pontocerebellar hypoplasia type 2 Show first 5 Terms

OTHER pontocerebellar hypoplasia type 2D PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SEPSECS	sepsecs	Pontocerebellar hypoplasia type 2D	613811

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None