NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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OMIM Id:
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256720
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001271)
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Polyneuropathy |
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56 / 7739
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2
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(HPO:0010864)
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Intellectual disability, severe |
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120 / 7739
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3
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(HPO:0009830)
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Peripheral neuropathy |
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206 / 7739
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4
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(HPO:0002445)
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Tetraplegia |
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26 / 7739
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5
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(HPO:0006887)
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Intellectual disability, progressive |
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68 / 7739
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6
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(HPO:0002757)
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Recurrent fractures |
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47 / 7739
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7
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(HPO:0000939)
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Osteoporosis |
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129 / 7739
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8
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(HPO:0002827)
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Hip dislocation |
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94 / 7739
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9
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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10
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(HPO:0003202)
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Skeletal muscle atrophy |
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281 / 7739
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11
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(HPO:0030043)
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Hip Subluxation |
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9 / 7739
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12
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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13
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(OMIM)
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Multiple system involvement of the spinal cord and cerebellum, coarse cerebral gyri and marked reduction in volume of white matter |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |