WARBURG MICRO SYNDROME 4
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 28 |
OrphanetNr: | |
OMIM Id: |
615663
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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:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000046) | Scrotal hypoplasia | 54 / 7739 | ||||
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0008734) | Decreased testicular size | 105 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000248) | Brachycephaly | rare [HPO:skoehler] | 222 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0005484) | Postnatal microcephaly | 32 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000482) | Microcornea | 102 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0002510) | Spastic tetraplegia | 54 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0008850) | Severe postnatal growth retardation | 16 / 7739 | ||||
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(HPO:0001007) | Hirsutism | rare [HPO:skoehler] | 91 / 7739 | |||
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(HPO:0003199) | Decreased muscle mass | 27 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0007095) | Frontoparietal polymicrogyria | 4 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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