ZFIN Human Disease: pontocerebellar hypoplasia type 2A

OBO ID: DOID:0060267

Term Name:	pontocerebellar hypoplasia type 2A		Search Ontology:
Synonyms:
Definition:	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/277470
References:	GARD:10705 GARD:3631 MESH:C564738 OMIM:277470 ORDO:2524 UMLS_CUI:C1848526
Ontology:	Human Disease ( DOID:0060267 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TSEN54	tsen54	Pontocerebellar hypoplasia type 2A	277470

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None