syndromic X-linked intellectual disability 5

Term ID

DOID:0060800

Synonyms

• Fried syndrome
• Mental retardation, X-linked syndromic 5
• MRX59
• MRXS21
• Pettigrew syndrome
• syndromic X-linked mental retardation 21
• syndromic X-linked mental retardation Fried type
• X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
• X-linked mental retardation 59
• X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures

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. (2)

References

• MESH:C535773
• NCI:C124839
• OMIM:304340
• ORDO:1568
• ORDO:85335
• SNOMEDCT_US_2023_03_01:719139003
• UMLS_CUI:C0796254

Ontology

Human Disease   ( DOID:0060800 )