Conditions / Nervous system
lissencephaly 8
info · Nervous system
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on ch
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
Signs and symptoms
- Delayed fine motor development
- Intellectual disability
- Axial hypotonia
- Delayed speech and language development
- Global developmental delay
- Delayed gross motor development
- Delayed early-childhood social milestone development
- Appendicular spasticity
- Type II lissencephaly
- Ventriculomegaly
Also known as: LIS8