Metadata | |
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ID | DOID:0060267 |
Name | pontocerebellar hypoplasia type 2A |
Definition | A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/277470 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |