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pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Summary
- Synonym
-
- PAMDDFS
- Definition
- A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.
- Super Class
- lissencephaly
External Links
- Disease Ontology
- DOID:0081266
- Mondo Disease Ontology
- OMIM
