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developmental delay, hypotonia, and impaired language
Summary
- Synonym
-
- DEDHIL
- Definition
- An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070420
- Mondo Disease Ontology
- OMIM
