Grubben-de Cock-Borghgraef syndrome
MeSH: C537621ORPHA: 2101
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Grubben-de Cock-Borghgraef syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionRound faceShort neckAbnormality of eye movementBlue scleraeDelayed speech and language developmentDry skinEczematoid dermatitisSeizureHypotoniaGlobal developmental delayReduced tendon reflexesPartial agenesis of the corpus callosumDeviation of fingerSmall hand
Classification & Codes
MeSH Code
C537621Orphanet Code
ORPHA:2101Grubben-de Cock-Borghgraef syndrome
| MeSH | C537621 |
| Orphanet | ORPHA:2101 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO