Intellectual Developmental Disorder, X-Linked, Syndromic 33; MRXS33

Intellectual Developmental Disorder, X-Linked, Syndromic 33; MRXS33

OMIM number: 300966

Comments closing date: 25/01/2023

X-linked syndromic intellectual developmental
disorder-33 (MRXS33) is a neurodevelopmental
disorder resulting in global developmental delay,
intellectual disability with delayed speech and
language, generalized hypotonia, and joint
hypermobility. Commonly affected individuals will
also have growth retardation, dysmorphic facial
features, hearing impairment and mobility
impairment. Symptoms are predominantly neurodevelopmental
with global delay characterised by Delayed
psychomotor development, intellectual disability,
Delayed speech. Patient additionally will have
musculoskeletal symptoms resulting in growth
retardation, movement disorders and tremor. Due
to dysmorphic facial features there can be
difficulties with swallowing.

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