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autosomal dominant intellectual developmental disorder 40
Summary
- Synonym
-
- MRD40
- autosomal dominant mental retardation 40
- autosomal dominant non-syndromic intellectual disability 40
- Definition
- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070070
- Mondo Disease Ontology
- OMIM
