has material basis in germline mutation in FOXP1 intellectual disability-severe speech delay-mild dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9008 https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome https://www.malacards.org/card/intellectual_developmental_disorder_with_language_impairment_and_with_or_without_autistic_features https://www.malacards.org/card/intellectual_disability_severe_speech_delay_mild_dysmorphism_syndrome Orphanet:391372 FOXP1 related global developmental delay, intellectual disability and speech defects An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is 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 palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and 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 occurred de novo (without any cases in the family). intellectual disability-severe speech delay-mild dysmorphism syndrome DOID:0111331 FOXP1 haploinsufficiency FOXP1 syndrome MONDO:0013352 FOXP1-related neurodevelopmental disorder GARD:0012501 intellectual disability with language impairment and with or without autistic features MEDGEN:862201 UMLS:C4013764 OMIM:613670 mental retardation with language impairment and with or without autistic features autosomal dominant syndromic intellectual disability