Hypomyelination - hypogonadotropic hypogonadism - hypodontia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
4H syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 88637 |
| OMIM Id: |
607694
614381 |
| ICD-10: |
E23.0 E75.2 K00.0 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
-Rare genetic disease -Rare neurologic disease Syndrome with hypogonadotropic hypogonadism -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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