OBO ID: DOID:0060273
Term Name: pontocerebellar hypoplasia type 4 Search Ontology:
Synonyms:
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/225753
References:
Ontology: Human Disease   ( DOID:0060273 )
OTHER pontocerebellar hypoplasia type 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN54 Pontocerebellar hypoplasia type 4 225753
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None