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Claes-Jensen type X-linked recessive intellectual disability

Claes-Jensen type X-linked recessive intellectual disability

OMIM number: 300534

Comments closing date: 16/06/2020

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Claes-Jensen type X-linked recessive intellectual
disability (also called Claes-Jensen syndrome) is a
rare hereditary condition which affects learning,
growth, and development. Claes-Jensen
syndrome is an “X-linked recessive” condition,
which means the condition primarily affects boys.
Women can be carriers of the condition, but
usually do not show any symptoms of the
condition. Men and boys with Claes-Jensen
syndrome are born with a mutation in their
JARID1C gene (also called KDM5C). This gene is
important for the development of the brain, and is
thought to control many other genes. Features of
this condition include learning difficulties, which
are usually severe but can also be mild or
moderate. Other features include seizures and
behavioural problems. Some people with this
condition had changes to their physical
development, such as short stature, asymmetrical
limbs, or short fingers.

Review date: 19 May 2022