Conditions / Genetic
complex cortical dysplasia with other brain malformations 15
info · Genetic
A cortical dysplasia with other brain malformation 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
A cortical dysplasia with other brain malformation 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.
Signs and symptoms
- Protruding ear
- Pachygyria
- Progressive microcephaly
- Smooth philtrum
- Axial hypotonia
- Hypoplasia of the corpus callosum
- Interictal epileptiform activity
- Brisk reflexes
- Upslanted palpebral fissure
- Bulbous nose
Also known as: CDCBM15; PAMDDFS; pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures