Ring chromosome Y syndrome

Orpha code: 261529OMIM code:

Definicja

Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized 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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Ring chromosome Y
r(Y)
r(Y)
Kod ORPHA
261529
Kod OMIM
-
Kod ICD10
Q98.6
Kod ICD11
-

No additional description.

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