chromosome 1q41-q42 deletion syndrome
ORPHA: 250999
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 1q41-q42 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAbnormality of the genital systemCleft palateSubmucous cleft hard palateAbnormality of the faceCoarse facial featuresUnderdeveloped nasal alaeBroad nasal tipStrabismusDeeply set eyeAbnormality iris morphologyUpslanted palpebral fissureHypotelorismAtypical behaviorCongenital diaphragmatic herniaHypergonadotropic hypogonadismIntellectual disabilitySeizureGlobal developmental delayNeonatal hypotoniaHoloprosencephalyGrowth delayShort statureTalipes equinovarusSmall nailMorphological central nervous system abnormalityFrontal bossingPulmonary hypoplasiaDepressed nasal bridgeSevere global developmental delayHyposegmentation of neutrophil nucleiThick vermilion border
Classification & Codes
Orphanet Code
ORPHA:250999chromosome 1q41-q42 deletion syndrome
| Orphanet | ORPHA:250999 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO