Goldberg-Shprintzen syndrome (Q3508639)
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A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
- Goldberg-Shprintzen megacolon syndrome
- Shprintzen-Goldberg craniosynostosis syndrome
- GOLDBERG-SHPRINTZEN SYNDROME; GOSHS
- GOLDBERG-SHPRINTZEN SYNDROME
- Megacolon-microcephaly syndrome
- GOSHS
- Goldberg–Shprintzen
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Goldberg-Shprintzen syndrome |
A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. |
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C124840
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