| Metadata | |
|---|---|
| ID | DOID:0060800 |
| Name | syndromic X-linked intellectual disability 5 |
| Definition | A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/23756445, https://www.ncbi.nlm.nih.gov/pubmed/19377476 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719139003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Fried syndrome [EXACT] Mental retardation, X-linked syndromic 5 [EXACT] MRX59 [EXACT] MRXS21 [EXACT] Pettigrew syndrome [EXACT] syndromic X-linked mental retardation 21 [EXACT] syndromic X-linked mental retardation Fried type [EXACT] X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [EXACT] X-linked mental retardation 59 [EXACT] X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |