deletion 5q35
MeSH: C537647ORPHA: 1627
Overview
(5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
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 deletion 5q35, sourced from HPO and Orphanet clinical annotations.
Abnormal heart morphologyLarge fontanellesMacrocephalyEpicanthusHypertelorismShort neckPectus carinatumHypotoniaMotor delayFailure to thrive in infancyHypoplastic nipplesKyphoscoliosisPostnatal growth retardationIncreased nuchal translucency
Classification & Codes
MeSH Code
C537647Orphanet Code
ORPHA:1627deletion 5q35
| MeSH | C537647 |
| Orphanet | ORPHA:1627 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO