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GAND syndrome
Summary
- Synonym
-
- MRD18
- autosomal dominant intellectual developmental disorder 18
- autosomal dominant mental retardation 18
- autosomal dominant non-syndromic intellectual disability 18
- Definition
- An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070048
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
