Metadata | |
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ID | DOID:0060266 |
Name | pontocerebellar hypoplasia type 1B |
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 |
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DO_rare_slim |
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