/intellectual disability, autosomal recessive 53

intellectual disability, autosomal recessive 53

Rare Disease

MONDO:0014832

Also Known As

GPIBD13MRT53PIGG-CDGcongenital disorder of glycosylation due to PIGG deficiencyearly-onset epilepsy-intellectual disability-brain anomalies syndromeglycosylphosphatidylinositol biosynthesis defect 13intellectual developmental disorder, autosomal recessive 53intellectual disability, autosomal recessive 53intellectual disability, autosomal recessive type 53mental retardation, autosomal recessive 53mental retardation, autosomal recessive type 53

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Associated Genes

PIGG ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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intellectual disability, autosomal recessive 53

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

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