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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 93972
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported.
The syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit.
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Inheritance is X-linked recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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