X-linked neurodegenerative syndrome, Bertini type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 85334 |
| 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: | 7 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Rare neurodegenerative disease -Rare neurologic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Very frequent [Orphanet] | 180 / 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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