48,XXXY syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 55 |
| OrphanetNr: | 96263 |
| OMIM Id: |
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| ICD-10: |
Q98.1 |
| UMLs: |
C0265498 |
| MeSH: |
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| MedDRA: |
10048228 |
| Snomed: |
78317008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease Sex chromosome disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease X chromosome number anomaly with male phenotype -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000046) | Scrotal hypoplasia | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000107) | Renal cyst | Occasional [Orphanet] | 126 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0008669) | Abnormal spermatogenesis | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000682) | Abnormality of dental enamel | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000679) | Taurodontia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000689) | Dental malocclusion | Frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000470) | Short neck | Occasional [Orphanet] | 345 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Occasional [Orphanet] | 222 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Occasional [Orphanet] | 197 / 7739 | |||
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000389) | Chronic otitis media | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0000717) | Autism | Frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0100851) | Abnormal emotion/affect behavior | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001337) | Tremor | Occasional [Orphanet] | 200 / 7739 | |||
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(HPO:0000752) | Hyperactivity | Frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0000771) | Gynecomastia | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001763) | Pes planus | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0002974) | Radioulnar synostosis | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0000774) | Narrow chest | Frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0002019) | Constipation | Frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0001513) | Obesity | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0000098) | Tall stature | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002099) | Asthma | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|