distal monosomy 7q36
ORPHA: 1636
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 distal monosomy 7q36, sourced from HPO and Orphanet clinical annotations.
MicrocephalyFull cheeksMicrognathiaBulbous noseShort neckUpslanted palpebral fissureHypotoniaHypertoniaAbnormal calvaria morphologyShort statureBorderline intellectual disabilityBilateral single transverse palmar creasesHypoplasia of penisAbnormality of immune system physiologyFlat faceLarge faceCryptorchidismWide mouthCleft palateMacrotiaStrabismusSeizureHoloprosencephalyNon-midline cleft of the upper lipOptic atrophyPectus excavatumClinodactyly of the 5th fingerWide intermamillary distanceHernia
Classification & Codes
Orphanet Code
ORPHA:1636distal monosomy 7q36
| Orphanet | ORPHA:1636 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO