Mental Retardation with Language Impairment and with or Without Autistic Features

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OMIM 57 613670 Orphanet 59 ORPHA391372 ICD10 via Orphanet 34 Q87.2

MedGen 42 C4013764 C3150923 MeSH 44 D001321 D007806 D008607 SNOMED-CT via HPO 69 263681008 262016004 194021007 22006008 249327002 128602000 22066006 246800008 563001 248004009 61372001 5507002 84328007 162294008 229721007 29164008 62415009 44548000 228156007 247578003 91138005 414915002 414916001 430099007 249310005 135810007 more

OMIM : ⁵⁷ 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). (613670)

MalaCards based summary : Mental Retardation with Language Impairment and with or Without Autistic Features, also known as mental retardation with language impairment and autistic features, is related to intellectual disability-severe speech delay-mild dysmorphism syndrome. An important gene associated with Mental Retardation with Language Impairment and with or Without Autistic Features is FOXP1 (Forkhead Box P1). Affiliated tissues include tongue, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation with language impairment and autistic features: A developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors.

Clinical features from OMIM:

613670

Search Clinical Trials , NIH Clinical Center for Mental Retardation with Language Impairment and with or Without Autistic Features

Search GEO for disease gene expression data for Mental Retardation with Language Impairment and with or Without Autistic Features.