non-syndromic X-linked intellectual disability ARX-related

Term ID

DOID:0112021

Synonyms

• ARX-related intellectual disability
• MRXARX
• X-linked mental retardation 29
• X-linked mental retardation 29 and others
• X-linked mental retardation 32
• X-linked mental retardation 33
• X-linked mental retardation 38
• X-linked mental retardation 43
• X-linked mental retardation 52
• X-linked mental retardation 54
• X-linked mental retardation 76
• X-linked mental retardation 87
• X-linked mental retardation with or without seizures ARX-related

Definition

A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (2)

References

• GARD:5614
• MIM:300419

Ontology

Human Disease   ( DOID:0112021 )