has material basis in germline mutation in PIGT syndromic intellectual disability skeletal system disorder multiple congenital anomalies-hypotonia-seizures syndrome 3 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6289 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/multiple_congenital_anomalies_hypotonia_seizures_syndrome_3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT OMIM:603530 GARD:0017584 MONDO:0014165 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. LFSS OMIM:615398 PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability PIGT-CDG congenital disorder of glycosylation due to PIGT deficiency Orphanet:369837 MESH:C566367 UMLS:C3809356 DOID:0080140 MCAHS type 3 MCAHS3 MEDGEN:815686 multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome type 3 developmental anomaly of metabolic origin inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation obsolete slender bone dysplasia multiple congenital anomalies-hypotonia-seizures syndrome