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XY type gonadal dysgenesis-associated anomalies syndrome

MeSH: C565536ORPHA: 1770

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 XY type gonadal dysgenesis-associated anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the ureterGonadal dysgenesisPolycystic ovariesAtresia of the external auditory canalBrachydactylyLarge handsMild intellectual disabilityUmbilical herniaVentricular septal defectDelayed skeletal maturationBiparietal narrowingPreauricular pitBilateral single transverse palmar creasesAbnormal hair patternBroad thumbMild global developmental delayCleft palateEpicanthusAbnormality of the philtrumDownslanted palpebral fissuresShort columellaShort statureMicrotiaRenal hypoplasia/aplasiaNon-midline cleft of the upper lipPosteriorly rotated ears

Classification & Codes

MeSH Code

C565536

Orphanet Code

ORPHA:1770
XY type gonadal dysgenesis-associated anomalies syndrome
MeSHC565536
OrphanetORPHA:1770
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
XY type gonadal dysgenesis-associated anomalies syndrome | OrphanDrug