| Metadata | |
|---|---|
| ID | DOID:0070776 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070776 Copy |
| Name | impaired intellectual development and distinctive facial features with or without cardiac defects |
| 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. https://pubmed.ncbi.nlm.nih.gov/42345332/, https://www.ncbi.nlm.nih.gov/books/NBK613517/, https://pubmed.ncbi.nlm.nih.gov/25758992/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:787093004 |
| SKOS |
exactMatch MIM:616789 exactMatch ORDO:369891 exactMatch ICD10CM:Q87.85 exactMatch UMLS_CUI:C5192431 |
| Subsets |
DO_rare_slim |
| Synonyms |
Asadollahi-Rauch syndrome [EXACT] MED13L syndrome [EXACT] MED13L-related intellectual disability [EXACT] MRFACD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |