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ID | DOID:0060279 |
Name | pontocerebellar hypoplasia type 10 |
Definition | A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. https://pubmed.ncbi.nlm.nih.gov/24766809/, https://pubmed.ncbi.nlm.nih.gov/24766810/ |
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