INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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600546
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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:0000252)
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Microcephaly |
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832 / 7739
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2
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(HPO:0001999)
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Abnormal facial shape |
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169 / 7739
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3
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(HPO:0001263)
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Global developmental delay |
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853 / 7739
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4
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(HPO:0001511)
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Intrauterine growth retardation |
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358 / 7739
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5
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(HPO:0008897)
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Postnatal growth retardation |
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113 / 7739
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6
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(HPO:0001876)
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Pancytopenia |
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89 / 7739
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7
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(HPO:0003220)
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Abnormality of chromosome stability |
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98 / 7739
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8
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(OMIM)
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Normal cellular bone marrow infiltrated with small lymphocytes |
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1 / 7739
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9
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(OMIM)
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Increased mitomycin C-induced chromosome damage |
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1 / 7739
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10
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(OMIM)
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Increased spontaneous chromosome breakage in blood and fibroblasts |
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1 / 7739
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11
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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12
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(OMIM)
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Growth retardation, pre- and postnatal |
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3 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |