intellectual disability-severe speech delay-mild dysmorphism syndrome Disease Ontology Browser

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intellectual disability-severe speech delay-mild dysmorphism syndrome (DOID:0111331)
Alliance: disease page
Synonyms: FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder; Mental retardation with language impairment and with or without autistic features
Alt IDs: OMIM:613670, ORDO:391372
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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