Neuhauser-Eichner-Opitz syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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2672
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
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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:0002167)
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Neurological speech impairment |
Occasional [Orphanet]
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308 / 7739
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2
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(HPO:0002066)
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Gait ataxia |
Very frequent [Orphanet]
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327 / 7739
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3
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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4
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(HPO:0001315)
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Reduced tendon reflexes |
Frequent [Orphanet]
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160 / 7739
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5
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(HPO:0100022)
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Abnormality of movement |
Frequent [Orphanet]
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129 / 7739
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6
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(HPO:0000708)
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Behavioral abnormality |
Occasional [Orphanet]
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212 / 7739
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7
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(HPO:0001382)
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Joint hypermobility |
Frequent [Orphanet]
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231 / 7739
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8
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(HPO:0001252)
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Muscular hypotonia |
Occasional [Orphanet]
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990 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |