developmental delay, hypotonia, and impaired language

Term ID

DOID:0070420

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/35395208/

References

• MIM:620012

Ontology

Human Disease   ( DOID:0070420 )