GTR Home > Conditions/Phenotypes > Mental retardation with language impairment and with or without autistic features

Summary

Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 12CC4, HSPC215, MFH, QRF1, hFKH1B, FOXP1
    Summary: forkhead box P1

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