Hydrocephalus - obesity - hypogonadism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Sengers-Hamel-Otten syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 2183 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive X-linked [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-hypogonadotropic hypogonadism
-Rare endocrine disease -Rare genetic disease Syndromic obesity -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
|
|
(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|