DO_rare_slim has material basis in autosomal recessive disease syndromic intellectual disability impaired intellectual development and distinctive facial features with or without cardiac defects ORDO:369891 MIM:616789 UMLS_CUI:C5192431 ORDO:369891 UMLS_CUI:C5192431 MIM:616789 SNOMEDCT_US_2026_03_01:787093004 disease_ontology ICD10CM:Q87.85 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. Asadollahi-Rauch syndrome DOID:0070776 ICD10CM:Q87.85 MED13L syndrome MED13L-related intellectual disability MRFACD autosomal recessive inheritance