Goldberg-Shprintzen syndrome

Term ID

DOID:0060481

Synonyms

• Goldberg-Shprintzen megacolon syndrome

Definition

A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (3)

References

• GARD:9849
• MESH:C537279
• OMIM:609460
• ORDO:66629
• SNOMEDCT_US_2023_03_01:717822006
• UMLS_CUI:C1836123

Ontology

Human Disease   ( DOID:0060481 )