OBO ID: DOID:0111331
Term Name: intellectual disability-severe speech delay-mild dysmorphism syndrome Search Ontology:
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 )
OTHER intellectual disability-severe speech delay-mild dysmorphism syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXP1 Intellectual developmental disorder with language impairment with or without autistic features 613670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None