multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0017748
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
MONDO:0100247
multiple congenital anomalies-hypotonia-seizures syndrome
is_a
DEE20
exact
GPIBD4
exact
MCAHS type 2
exact
MCAHS2
exact
PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability
exact
developmental and epileptic encephalopathy 20
exact
epileptic encephalopathy, early infantile, 20
exact
glycosylphosphatidylinositol biosynthesis defect 4
exact
multiple congenital anomalies-hypotonia-seizures syndrome 2
exact
multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive
exact
multiple congenital anomalies-hypotonia-seizures syndrome type 2
exact
multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA
exact
SPBC3D6.07