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Biemond syndrome type 2
ORPHA:141333 · Disease · Disorder
HPO 表現型（共 12 項）
Very frequent (99-80%)(12)
- ColobomaHP:0000589
- Delayed pubertyHP:0000823
- HydrocephalusHP:0000238
- HypogonadismHP:0000135
- Hypogonadotropic hypogonadismHP:0000044
- HypospadiasHP:0000047
- Intellectual disabilityHP:0001249
- Mandibulofacial dysostosisHP:0005321
- MicrophthalmiaHP:0000568
- ObesityHP:0001513
- Preaxial polydactylyHP:0100258
- Short statureHP:0004322