OBO ID: DOID:0060272
Term Name: pontocerebellar hypoplasia type 3 Search Ontology:
Synonyms:
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. https://www.omim.org/entry/608027
References:
Ontology: Human Disease   ( DOID:0060272 )
OTHER pontocerebellar hypoplasia type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCLO ?Pontocerebellar hypoplasia, type 3 608027
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None