Tetrasomy X

General Information (adopted from Orphanet):

Synonyms, Signs: 48,XXXX
Quadruple X
Tetra X
Number of Symptoms 16
OrphanetNr: 9
OMIM Id:
ICD-10: Q97.1
UMLs: C0265496
MeSH: C536502
MedDRA:
Snomed: 10567003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-acquired premature ovarian failure
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Polysomy of X chromosome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
2
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
4
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
6
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
7
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
8
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
9
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
11
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
12
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
13
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
14
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
15
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: