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Cataract-deafness-hypogonadism syndrome
ORPHA:1383 · Malformation syndrome · Disorder
HPO 表現型(共 6 項)
Frequent (79-30%)(6)
- Developmental cataractHP:0000519
- Generalized hypertrichosisHP:0004554
- HypogonadismHP:0000135
- Mild intellectual disabilityHP:0001256
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322