pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Term ID

DOID:0081266

Synonyms

• 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. (2)

References

• MIM:618737

Ontology

Human Disease   ( DOID:0081266 )