Metadata | |
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ID | DOID:0060270 |
Name | pontocerebellar hypoplasia type 2D |
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 |
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DO_rare_slim |
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