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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).
ORPHA:93973Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: 309580
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family.
In the affected males the syndrome was characterised by a coarse facial appearance (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short stature and moderate intellectual deficit.
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females.