impaired intellectual development and distinctive facial features with or without cardiac defects Disease Ontology Browser

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impaired intellectual development and distinctive facial features with or without cardiac defects (DOID:0070776)
Alliance: disease page
Synonyms: Asadollahi-Rauch syndrome; MED13L syndrome; MED13L-related intellectual disability; MRFACD
Alt IDs: OMIM:616789, ICD10CM:Q87.85, ORDO:369891, UMLS_CUI:C5192431
Definition: A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia that has_material_basis_in heterozygous mutation in the MED13L gene on chromosome 12q24.

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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