Dermatoleukodystrophy
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 6 |
OrphanetNr: | 1659 |
OMIM Id: |
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ICD-10: |
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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: | 2 cases [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0012639) | Abnormality of nervous system morphology | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 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 |
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