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C133729Level 5

Intellectual Developmental Disorder, X-linked 1

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - MRX1 - Mental Retardation, X-linked 1 - Nonsyndromic X-Linked Cognitive Disability

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