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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01797 |
Webb-Dattani syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome |
... seizures, severe visual impairment, and abnormalities of the kidneys and urinary tract. A homozygous frameshift mutation in the basic HLH transcription factor ARNT2 has been revealed in affected individuals. | Congenital malformation | ARNT2 [HSA:9915] [KO:K15589] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |