eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | west syndrome |
| Comorbidity | C0020757|ichthyosis |
| Sentences | 1 |
| PubMedID- 22242004 | In contrast, the two families with dolk mutations originally described by kranz et al [9] showed a severe congenital multisystem phenotype including a variable presentation of cardiac failure, severe muscular hypotonia, and ichthyosis, with epilepsy due to hypsarrhythmia, microcephaly and visual impairment, leading to death within 6 months after birth. |
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