female-restricted syndromic X-linked intellectual disability 99

Term ID

DOID:0112025

Synonyms

• female-restricted syndromic X-linked mental retardation 99
• MRXS99F
• X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

Definition

A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. https://pubmed.ncbi.nlm.nih.gov/26833328/

References

• GARD:13638
• MIM:300968

Ontology

Human Disease   ( DOID:0112025 )