Intellectual disability, X-linked 102

MONDO:0010497

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Also known as: DDX3X non-syndromic X-linked intellectual disability, intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant, intellectual disability, X-linked 102, intellectual disability, X-linked type 102, mental retardation, X-linked type 102, non-syndromic X-linked intellectual disability caused by mutation in DDX3X, DDX3X-related intellectual disability, MRX102

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) X-linked disease (16) Human disease (14) Hereditary neurological disease (6) Disease of genetic or genomic mechanism (2) X-linked intellectual disability (1)

Completed 1

Researchers map the features of a rare genetic syndrome

Knowledge-focused Completed

This study looked at 15 people with a rare genetic condition called DDX3X syndrome, which can cause intellectual disability and sometimes autism. Researchers used interviews, play-based assessments, and genetic tests to better understand the condition. The goal was to describe th…

Sponsor: Icahn School of Medicine at Mount Sinai • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:05 UTC

Intellectual disability, X-linked 102

Broader categories

Researchers map the features of a rare genetic syndrome