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- B72c81788fc6b26040af3be3636898eb8 hasDbXref "https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome" @default.
- B72c81788fc6b26040af3be3636898eb8 type Axiom @default.
- B72c81788fc6b26040af3be3636898eb8 annotatedProperty IAO_0000115 @default.
- B72c81788fc6b26040af3be3636898eb8 annotatedSource MONDO_0013352 @default.
- B72c81788fc6b26040af3be3636898eb8 annotatedTarget "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." @default.