Search Ontology:
Human Disease

pontocerebellar hypoplasia type 2A

Term ID
DOID:0060267
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
Ontology
Human Disease   ( DOID:0060267 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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