DISEASES

Disease-gene associations mined from literature

Human genes for intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome [DOID:0111331]

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 FOXP1 on chromosome 3p13.

Synonyms:  intellectual disability-severe speech delay-mild dysmorphism syndrome,  DOID:0111331,  intellectual disabilitysevere speech delaymild dysmorphism syndrome,  intellectual disability-severe speech delay-mild dysmorphism disease,  intellectual disability-severe speech delay-mild dysmorphism disorder ...