Gabriele-de Vries syndrome

Term ID

DOID:0070802

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/28575647/

References

• ICD10CM:Q87.8
• MIM:617557
• NCI:C165531
• ORDO:506358
• SNOMEDCT_US_2026_03_01:1186730002
• UMLS_CUI:C4479652

Ontology

Human Disease   ( DOID:0070802 )