Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

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Synonyms: Congenital disorder of glycosylation due to PIGT deficiency | MCAHS type 3 | Multiple congenital anomalies-hypotonia-seizures syndrome type 3 | PIGT-CDG

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Genetic Support Network of Victoria

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Clinical Trials

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