syndromic X-linked intellectual disability 94

Term ID

DOID:0060823

Synonyms

• mental retardation, X-linked 94
• MRX94
• MRXS29
• syndromic X-linked intellectual disability due to GRIA3 anomalies
• syndromic X-linked mental retardation 29
• syndromic X-linked mental retardation Wu type

Definition

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (3)

References

• ICD10CM:F72
• MIM:300699
• ORDO:364028

Ontology

Human Disease   ( DOID:0060823 )