glycosylphosphatidylinositol biosynthesis defect 15
Go to external page http://purl.obolibrary.org/obo/MONDO_0060627
A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. [ Orphanet:529665 ]
Synonyms: glycosylphosphatidylinositol biosynthesis defect 15
Term information
- UMLS:C4540520 (MONDO:equivalentTo)
- Orphanet:529665 (MONDO:equivalentTo)
- OMIM:617810 (Orphanet:529665)
- GARD:17969 (MONDO:GARD)
- MEDGEN:1615160 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://omim.org/entry/617810
http://www.orpha.net/ORDO/Orphanet_529665
http://identifiers.org/medgen/1615160
http://linkedlifedata.com/resource/umls/id/C4540520
Term relations
- congenital disorder of glycosylation
- autosomal recessive disease
- developmental anomaly of metabolic origin
- inherited lipid metabolism disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disorder of GPI anchor biosynthesis
- disease has major feature some central nervous system malformation
- has material basis in germline mutation in some GPAA1