Goldberg-Shprintzen syndrome
(Q3508639)
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
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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Current Data About
Goldberg-Shprintzen syndrome
other details
| aliases |
Goldberg-Shprintzen megacolon syndrome Shprintzen-Goldberg craniosynostosis syndrome GOLDBERG-SHPRINTZEN SYNDROME; GOSHS GOLDBERG-SHPRINTZEN SYNDROME Megacolon-microcephaly syndrome GOSHS Goldberg–Shprintzen |
| description | 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 |
External Links
| (P486) |
C537279
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| (P492) |
609460
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| (P665) |
H00936
H00659 |
| (P699) |
DOID:0060481
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| (P1550) |
66629
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| (P2892) |
C1836123
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| (P4229) |
Q87.8
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| (P4317) |
9849
|
| (P5270) |
MONDO_0012280
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| (P11430) |
DI-01681
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