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Summary Literature (0)
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 : 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)