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45,X/46,XY mixed gonadal dysgenesis

ORPHA:1772 · Malformation syndrome · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(4)

CryptorchidismHP:0000028
Muscle hypertrophy of the lower extremitiesHP:0008968
Short statureHP:0004322
Unilateral cryptorchidismHP:0012741

Frequent (79-30%)(12)

Abnormal internal genitaliaHP:0000812
Ambiguous genitaliaHP:0000062
Ambiguous genitalia, femaleHP:0000061
Ambiguous genitalia, maleHP:0000033
AzoospermiaHP:0000027
Bilateral cryptorchidismHP:0008689
HypospadiasHP:0000047
Increased circulating gonadotropin levelHP:0000837
Male infertilityHP:0003251
MicropenisHP:0000054
Penoscrotal hypospadiasHP:0000808
Urogenital sinus anomalyHP:0100779

Occasional (29-5%)(44)

Abnormal cardiovascular system morphologyHP:0030680
Abnormal scrotum morphologyHP:0000045
Abnormality of the kidneyHP:0000077
Autistic behaviorHP:0000729
Bicuspid aortic valveHP:0001647
Bifid scrotumHP:0000048
Cervix cancerHP:0030079
ChordeeHP:0000041
Coarctation of aortaHP:0001680
Cubitus valgusHP:0002967
Decreased serum testosterone concentrationHP:0040171
Delayed pubertyHP:0000823
Delayed skeletal maturationHP:0002750
Developmental glaucomaHP:0001087
DyscalculiaHP:0002442
EpicanthusHP:0000286
EpispadiasHP:0000039
GonadoblastomaHP:0000150
GynecomastiaHP:0000771
Hallux valgusHP:0001822
Hearing impairmentHP:0000365
High palateHP:0000218
Horseshoe kidneyHP:0000085
HypothyroidismHP:0000821
Low posterior hairlineHP:0002162
MicrognathiaHP:0000347
Mild intellectual disabilityHP:0001256
Nail dysplasiaHP:0002164
NystagmusHP:0000639
ObesityHP:0001513
Ovarian serous cystadenomaHP:0012887
OvotestisHP:0012861
Pectus excavatumHP:0000767
Posteriorly rotated earsHP:0000358
Prolonged QT intervalHP:0001657
Recurrent otitis mediaHP:0000403
ScoliosisHP:0002650
Short 4th metacarpalHP:0010044
Short metatarsalHP:0010743
Streak ovaryHP:0010464
TachycardiaHP:0001649
Visual impairmentHP:0000505
Webbed neckHP:0000465
Wide intermamillary distanceHP:0006610