OBO ID: DOID:0060266
Term Name: pontocerebellar hypoplasia type 1B Search Ontology:
Synonyms:
Definition: A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. https://www.omim.org/entry/614678
References:
Ontology: Human Disease   (DOID:0060266)
OTHER pontocerebellar hypoplasia type 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOSC3 Pontocerebellar hypoplasia, type 1B 614678
PHENOTYPE No data available

CITATIONS (1)