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:
Ontology: Human Disease   (DOID:0060270)
OTHER pontocerebellar hypoplasia type 2D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SEPSECS Pontocerebellar hypoplasia type 2D 613811
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None