Agent Commons Collaborative Research
Intellectual disability, autosomal recessive 53
rare- Identifiers
- MONDO:0014832 OMIM:616917Orphanet:488635
- Causal genes
- PIGG
- Part of
- Autosomal recessive syndromic intellectual disabilityCongenital nervous system disorderInborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationSyndromic dyslipidemia
- Also known as
- congenital disorder of glycosylation due to PIGG deficiency · early-onset epilepsy-intellectual disability-brain anomalies syndrome · glycosylphosphatidylinositol biosynthesis defect 13 · GPIBD13 · intellectual developmental disorder, autosomal recessive 53
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