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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:93970Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 309580
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown but the syndrome was first described in 1984 in three males from two generations of the same family.
The syndrome is characterised by microcephaly, a large anterior fontanel, a characteristic facies (short nose, anteverted nares, epicanthal folds), club foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy.
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Inheritance is X-linked recessive.