Mental Retardation with Language Impairment and with or Without Autistic Features (MRLIAF)

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Disease Ontology 12 DOID:0111331 OMIM 56 613670 MeSH 43 D001321 D007806 D008607 ICD10 via Orphanet 33 Q87.0

Orphanet 58 ORPHA391372 MedGen 41 C3150923 C4013764 SNOMED-CT via HPO 68 109504005 11399002 11934000 128602000 128613002 13213009 135810007 14760008 162294008 17268007 194021007 195708003 203598005 22006008 22066006 221360009 225595004 22810007 228156007 229721007 229734008 246545002 246800008 247578003 248004009 248409006 249310005 249327002 262016004 263681008 274521009 29164008 313307000 36440009 385522000 397790002 398151007 398152000 406506008 40700009 40930008 414915002 414916001 419076005 430099007 432788009 44513007 44548000 48694002 55033002 5507002 563001 57048009 61152003 61372001 62415009 68345001 6950007 697898008 70995007 73211009 7461003 78164000 7890003 84328007 84757009 86765009 88565003 90708001 91138005 91175000 more

NIH Rare Diseases : ⁵² Intellectual disability -severe speech delay-mild dysmorphism syndrome , also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short nose with broad tip, head appearing too large for the body, frontal hair upsweep, bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have been the first to occur in the family (de novo ). This condition is caused by changes (mutations ) in the FOXP1 gene .

MalaCards based summary : Mental Retardation with Language Impairment and with or Without Autistic Features, also known as intellectual disability-severe speech delay-mild dysmorphism syndrome, is related to alacrima, achalasia, and mental retardation syndrome and sleep apnea. An important gene associated with Mental Retardation with Language Impairment and with or Without Autistic Features is FOXP1 (Forkhead Box P1). Affiliated tissues include eye, brain and heart, and related phenotypes are prominent forehead and expressive language delay

Disease Ontology : ¹² A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has material basis in heterozygous mutation in FOXP1 on chromosome 3p13.

OMIM : ⁵⁶ 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)

UniProtKB/Swiss-Prot : ⁷³ 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.