RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-RELATED CONDITION; FOXP1-Related Neurodevelopmental Disorder; IDDLA; intellectual developmental disorder with language impairment and with or without autistic features; intellectual disability with language impairment; mental retardation with language impairment and with or without autistic features
narrow_synonym:
INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES; mental retardation with language impairment and autistic features
ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome