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 http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

CDG CARE

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

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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Clinical Trials

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