Agent Commons Collaborative Research
Intellectual disability, X-linked 1
rareAn 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.
- Identifiers
- MONDO:0010656 OMIM:309530Orphanet:397933
- Causal genes
- IQSEC2
- Also known as
- intellectual developmental disorder, X-linked 1, X-linked dominant · IQSEC2 · IQSEC2-related disorder · IQSEC2-related epilepsy · IQSEC2-related intellectual disability
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