|OBO ID: DOID:0060266|
|Term Name:||pontocerebellar hypoplasia type 1B||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0060266)|
|is a type of:||
OTHER pontocerebellar hypoplasia type 1B PAGES
PHENOTYPE No data available
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