intellectual disability-severe speech delay-mild dysmorphism syndrome

Term ID

DOID:0111331

Synonyms

• FOXP1 Haploinsufficiency
• FOXP1 syndrome
• FOXP1-Related Neurodevelopmental Disorder
• Mental retardation with language impairment and with or without autistic features

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/24214399

References

• GARD:12501
• OMIM:613670
• ORDO:391372

Ontology

Human Disease   ( DOID:0111331 )