Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Disease ID: disease_node_19275
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| Dbxref | MIM:618737 |
|---|---|
| Subclassof | DOID_0050453 |
| Data Source | DOID |
| Synonyms | PAMDDFS |
| Doid Label | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
| Doid Description | 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. |
| Disease Node Id | disease_node_19275 |
| Doid Id | DOID_0081266 |
| Label | Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease)