has material basis in germline mutation in PIGG congenital nervous system disorder intellectual disability, autosomal recessive 53 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/neurodevelopmental_disorder_with_or_without_hypotonia_seizures_and_cerebellar_atrophy mental retardation, autosomal recessive type 53 early-onset epilepsy-intellectual disability-brain anomalies syndrome MRT53 Orphanet:488635 MONDO:0014832 glycosylphosphatidylinositol biosynthesis defect 13 congenital disorder of glycosylation due to PIGG deficiency UMLS:C4310794 OMIM:616917 GARD:0017897 intellectual developmental disorder, autosomal recessive 53 mental retardation, autosomal recessive 53 PIGG-CDG GPIBD13 MEDGEN:934761 intellectual disability, autosomal recessive type 53 intellectual disability, autosomal recessive 53 MONDO:0024253 syndromic dyslipidemia inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation autosomal recessive non-syndromic intellectual disability autosomal recessive syndromic intellectual disability