intellectual disability-severe speech delay-mild dysmorphism syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: foxp1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndromic intellectual disability (is_a)