Bonnemann-Meinecke-Reich syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Encephalopathy - intracerebral calcification - retinal degeneration |
| Number of Symptoms | 20 |
| OrphanetNr: | 1261 |
| OMIM Id: |
225755
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| ICD-10: |
Q04.8 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000268) | Dolichocephaly | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000505) | Visual impairment | Occasional [Orphanet] | 297 / 7739 | |||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001298) | Encephalopathy | 72 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0000824) | Growth hormone deficiency | 56 / 7739 | ||||
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(HPO:0002514) | Cerebral calcification | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Very frequent [Orphanet] | 253 / 7739 | |||
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(OMIM) | Calcification of the lenticular nuclei and ventricular dilatation on CT scan | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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