developmental delay, hypotonia, and impaired language (DOID:0070420)
Alliance: disease page
Synonyms: DEDHIL
Alt IDs: OMIM:620012
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.