multiple congenital anomalies-hypotonia-seizures syndrome 3
developmental defect during embryogenesis
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
genetic syndromic intellectual disability
multiple congenital anomalies-hypotonia-seizures syndrome
Monarch Disease Ontology release 2018-06-29
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.