SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/785303004
http://purl.bioontology.org/ontology/SNOMEDCT/785303004
Preferred Name

Multiple congenital anomalies, hypotonia, seizures syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.
Synonyms
Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency
PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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