DISEASES

Disease-gene associations mined from literature

Human genes for multiple congenital anomalies-hypotonia-seizures syndrome 3

Multiple congenital anomalies-hypotonia-seizures syndrome 3 [DOID:0080140]

A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.

Synonyms:  multiple congenital anomalies-hypotonia-seizures syndrome 3,  DOID:0080140,  multiple congenital anomalieshypotoniaseizures syndrome 3