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intellectual disability-severe speech delay-mild dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description 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.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013352:  intellectual disability-severe speech delay-mild dysmorphism syndrome
DOID:0111331: 
EFO:1001500: 
GARD:0012501: 
Orphanet:391372: 
UMLS:C3150923: 
UMLS:CN204965: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found