Pentasomy X

General Information (adopted from Orphanet):

Synonyms, Signs: 49,XXXXX
Penta-X
Poly-X
Number of Symptoms 23
OrphanetNr: 11
OMIM Id:
ICD-10: Q97.1
UMLs: C0265497
MeSH: C535319
MedDRA:
Snomed: 43248007

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Polysomy of X chromosome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
6
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
7
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
8
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
9
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
10
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
11
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
12
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
13
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
14
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
15
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
16
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
17
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
18
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
19
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
20
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
21
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
23
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: