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Metadata
ID DOID:0070420
Name developmental delay, hypotonia, and impaired language
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.
https://pubmed.ncbi.nlm.nih.gov/35395208/
Xrefs

MIM:620012

Synonyms

DEDHIL [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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