46, XX/XY
ICD-10: Q99.0ORPHA: 199310
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 46, XX/XY, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAbnormal testis morphologyAbnormal scrotum morphologyBifid scrotumPerineal hypospadiasMicropenisAmbiguous genitaliaAbnormality of the ovaryHypopigmented skin patchesClitoral hypertrophyGonadal dysgenesis with female appearance, maleTrue hermaphroditismBlood group antigen abnormalityAbnormal cellular immune system morphologyAbnormality of multiple cell lineages in the bone marrowOvotestisSingle transverse palmar crease
Classification & Codes
ICD-10 Code
Q99.0Orphanet Code
ORPHA:19931046, XX/XY
| ICD-10 | Q99.0 |
| Orphanet | ORPHA:199310 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO