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Description
- An X-linked recessive mental retardation syndrome.
- Characterized by:
- Dysmorphic features: relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, broad thumbs, and halluces.
- Hypotonia, constipation, partial agenesis of the corpus callosum.
- Some patients exhibit sensorineural hearing loss, joint laxity evolving into joint contractures.
- Hyperactivity and talkativeness are common.
History