Microcephaly - brain defect - spasticity - hypernatremia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Franek-Bocker-Kahlen syndrome
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Number of Symptoms
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6
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OrphanetNr:
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2523
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OMIM Id:
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ICD-10:
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Q02
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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
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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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Syndrome with microcephaly as major feature
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare neurologic disease
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1
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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2
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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3
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
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328 / 7739
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4
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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5
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(HPO:0002120)
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Cerebral cortical atrophy |
Very frequent [Orphanet]
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187 / 7739
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6
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(HPO:0012443)
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Abnormality of brain morphology |
Frequent [Orphanet]
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45 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |