intellectual disability-severe speech delay-mild dysmorphism syndrome

A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozy

A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.

Signs and symptoms

• Language impairment
• Failure to thrive in infancy
• Delayed CNS myelination
• Generalized hypotonia
• Motor delay
• Prominent forehead
• Aggressive behavior
• Anxiety
• Motor stereotypy
• Feeding difficulties in infancy

Also known as: FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder; Mental retardation with language impairment and with or without autistic features; intellectual developmental disorder with language impairment and with or without autistic features