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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-hypotonic facies).
ORPHA:93971Classification level: Disorder
Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood.
All affected males had a characteristic facies (bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia). The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism, and a low total finger ridge count.
The syndrome is caused by missense mutations in the ATRX gene (Xq13.3).
Inheritance is X-linked recessive.