A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterised by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. [from SNOMEDCT_US]
- MedGen UID:
- 1631964
- •Concept ID:
- C4706450
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews