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intellectual disability, X-linked 1

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Mondo Term and Equivalent IDs
MONDO:0010656:  intellectual disability, X-linked 1
GARD:0013221: 
MESH:C567906: 
NCIT:C133729: