46,XY sex reversal 4
- Synonyms
- 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION; CHROMOSOME 9p24.3 DELETION SYNDROME
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (4 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
Elevated circulating creatinine concentration
- MedGen UID: 148579
- Concept ID: C0700225
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased blood urea nitrogen
Increased blood urea nitrogen
- MedGen UID: 760252
- Concept ID: C0151539
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
- Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Imperforate anus
- Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Abnormality of the genitourinary system
- Agonadism
Agonadism
- MedGen UID: 899272
- Concept ID: C2118097
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Gonadal dysgenesis
Gonadal dysgenesis
- MedGen UID: 9075
- Concept ID: C0018051
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypoplastic labia majora
Hypoplastic labia majora
- MedGen UID: 107566
- Concept ID: C0566899
- Finding: Finding
Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Sex reversal
Sex reversal
- MedGen UID: 868596
- Concept ID: C4022995
- Finding: Finding
Abnormality of the genitourinary system
- Ureteropelvic junction obstruction
Ureteropelvic junction obstruction
- MedGen UID: 105482
- Concept ID: C0521619
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Uterine hypoplasia
Uterine hypoplasia
- MedGen UID: 120575
- Concept ID: C0266399
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Agonadism
- Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent otitis media
- Abnormality of the musculoskeletal system
- Distal symphalangism
Distal symphalangism
- MedGen UID: 350018
- Concept ID: C1861401
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Trigonocephaly
Trigonocephaly
- MedGen UID: 82713
- Concept ID: C0265535
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Distal symphalangism
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Microtia
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