multiple congenital anomalies-hypotonia-seizures syndrome 3
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019699
obsolete slender bone dysplasia (obsolete MONDO:0019699)
excluded_subClassOf
MONDO:0005172
skeletal system disorder
is_a
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
LFSS
exact
MCAHS type 3
exact
MCAHS3
related
PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability
exact
PIGT-CDG
exact
congenital disorder of glycosylation due to PIGT deficiency
exact
multiple congenital anomalies-hypotonia-seizures syndrome 3
exact
multiple congenital anomalies-hypotonia-seizures syndrome type 3
exact
multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT
exact
SPBC1604.15