multiple congenital anomalies-hypotonia-seizures syndrome 1
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017748
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a
MONDO:0100247
multiple congenital anomalies-hypotonia-seizures syndrome
is_a
MCAHS1
related
PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability
exact
PIGN-CDG
exact
PIGN-related inherited GPI deficiency
narrow
congenital disorder of glycosylation due to PIGN deficiency
exact
inherited GPI anchor-deficiency
exact
multiple congenital anomalies - hypotonia - seizures syndrome
related
multiple congenital anomalies-hypotonia-seizures syndrome 1
exact
multiple congenital anomalies-hypotonia-seizures syndrome type 1
exact
multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN
exact
SPBC839.08c