chromosome 1p32-p31 deletion syndrome
ORPHA: 401986
Overview
Human disease
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 chromosome 1p32-p31 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayVentriculomegalyAplasia/Hypoplasia of the corpus callosumAbnormality of the urinary systemMacrocephalyCompulsive behaviorsIntellectual disabilitySeizureHypotoniaFrontal bossingTethered cordAttention deficit hyperactivity disorderChiari type I malformationIntraventricular hemorrhageCutis marmorataCraniosynostosisOcular hypertensionMoyamoya phenomenon
Classification & Codes
Orphanet Code
ORPHA:401986chromosome 1p32-p31 deletion syndrome
| Orphanet | ORPHA:401986 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO