| Metadata | |
|---|---|
| ID | DOID:0060481 |
| Name | Goldberg-Shprintzen 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. https://www.ncbi.nlm.nih.gov/pubmed/23427148, https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15883926 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717822006 |
| Subsets |
DO_rare_slim |
| Synonyms |
Goldberg-Shprintzen megacolon syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |