intellectual disability-severe speech delay-mild dysmorphism syndrome
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).
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
FOXP1 haploinsufficiency
exact
FOXP1 related global developmental delay, intellectual disability and speech defects
related
FOXP1 syndrome
exact
FOXP1-related neurodevelopmental disorder
exact
intellectual disability with language impairment and with or without autistic features
related
intellectual disability-severe speech delay-mild dysmorphism syndrome
exact
mental retardation with language impairment and with or without autistic features
related