DOID:0111331 - intellectual disability-severe speech delay-mild dysmorphism syndrome
Disease Ontology 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.
Synonyms: FOXP1 syndrome, Mental retardation with language impairment and with or without autistic features,
Xenbase Genes : foxp1
|OMIM:613670 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee