Details of Disease | DrugMAP

General Information of Disease (ID: DISHFIJP)

Disease Name	Intellectual disability-severe speech delay-mild dysmorphism syndrome
Synonyms	mental retardation with language impairment and with or without autistic features; intellectual disability with language impairment and with or without autistic features; FOXP1 related global developmental delay, intellectual disability and speech defects; intellectual disability-severe speech delay-mild dysmorphism syndrome
Definition	Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISHFIJP: Intellectual disability-severe speech delay-mild dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0013352 UMLS CUI C4013764 OMIM ID 613670 MedGen ID 862201 Orphanet ID 391372

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXP1	TT0MUCI	Strong	CausalMutation	[1]
FOXP1	TT0MUCI	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXP1	OTSG6XGF	Definitive	Autosomal dominant	[2]
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References

1	Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.Hum Mutat. 2017 Nov;38(11):1542-1554. doi: 10.1002/humu.23303. Epub 2017 Aug 14.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.