WNT4 deficiency
ORPHA: 247768
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 WNT4 deficiency, sourced from HPO and Orphanet clinical annotations.
Hypoplasia of the uterusRenal agenesisAbnormality of the ovaryAbnormal vagina morphologyCleft palateShort philtrumProtruding earShort neckThick eyebrowSynophrysPrimary amenorrheaShield chestHirsutismAcneBrachydactylyObesityFrontal baldingCubitus valgusShort statureHigh anterior hairlineFacial hirsutismIncreased serum testosterone level
Classification & Codes
Orphanet Code
ORPHA:247768WNT4 deficiency
| Orphanet | ORPHA:247768 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO