Conditions / Genetic
multiple congenital anomalies-hypotonia-seizures syndrome 4
info · Genetic
A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene
A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.
Signs and symptoms
- Poor head control
- Floppy infant
- Astigmatism
- Long philtrum
- Anteverted nares
- Inguinal hernia
- Wide anterior fontanel
- Elevated circulating alkaline phosphatase concentration
- Myoclonic seizure
- Vertical nystagmus
Also known as: DEE77; GPIBD19; MCAHS4; developmental and epileptic encephalopathy 77; early infantile epileptic encephalopathy 77