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MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3

Known as: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7, GPIBD7, MCAHS3 
National Institutes of Health

Related topics

Related topics

22 relations
Autosomal recessive inheritanceBrachycephalyByzanthine arch palateCerebellar Hypoplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Is leucodystrophy really a feature of PIGT‐CDG?
We have read with great interest the description of neuropathological findings in a deceased 11-month-old child with PIGT-CDG… 
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