Gonadal dysgenesis, XY type - associated anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 45
OrphanetNr: 1770
OMIM Id: 233430
ICD-10: Q99.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
2
 (HPO:0000786) Primary amenorrhea 61 / 7739
3
 (HPO:0000133) Gonadal dysgenesis 21 / 7739
4
 (HPO:0000069) Abnormality of the ureter Very frequent [Orphanet] 47 / 7739
5
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
6
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
7
 (HPO:0002000) Short columella 11 / 7739
8
 (HPO:0000202) Oral cleft 120 / 7739
9
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
10
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
11
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
12
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
13
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
14
 (HPO:0000436) Abnormality of the nasal tip Frequent [Orphanet] 18 / 7739
15
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
16
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
18
 (HPO:0001999) Abnormal facial shape 169 / 7739
19
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
20
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
21
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
22
 (HPO:0004467) Preauricular pit 39 / 7739
23
 (HPO:0001256) Intellectual disability, mild 141 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
25
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
26
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
27
 (HPO:0001769) Broad foot 31 / 7739
28
 (HPO:0010884) Acromelia 1 / 7739
29
 (HPO:0001169) Broad palm 43 / 7739
30
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
31
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
32
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
33
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
34
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
35
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
36
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
39
 (OMIM) Small nares 3 / 7739
40
 (OMIM) Unusual position of hair whorls 1 / 7739
41
 (OMIM) Punched out scalp defects 1 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (OMIM) Ectodermal defects 1 / 7739
44
 (OMIM) Peculiar facies 7 / 7739
45
 (OMIM) Developmental delay, mild 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: