Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Sohval-Soffer syndrome |
| Number of Symptoms | 30 |
| OrphanetNr: | 2234 |
| OMIM Id: |
307500
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Non-hypogonadotropic hypogonadism -Rare endocrine disease -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000026) | Male hypogonadism | 20 / 7739 | ||||
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(HPO:0000815) | Hypergonadotropic hypogonadism | 48 / 7739 | ||||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000046) | Scrotal hypoplasia | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000771) | Gynecomastia | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000820) | Abnormality of the thyroid gland | Frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0100745) | Abnormality of the humeroulnar joint | Frequent [Orphanet] | 4 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000921) | Missing ribs | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0005820) | Superior rib anomalies | 1 / 7739 | ||||
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(HPO:0003319) | Abnormality of the cervical spine | 6 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003782) | Eunuchoid habitus | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0001513) | Obesity | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0003074) | Hyperglycemia | 37 / 7739 | ||||
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(HPO:0000833) | Glucose intolerance | 20 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Testicular biopsy shows true germinal aplasia or complete seminiferous tubular fibrosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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