Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111331 )
Relationships
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Genes Involved
Zebrafish Models