eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0014544|epilepsy |
| Sentences | 4 |
| PubMedID- 22991235 | Wolcott-rallison syndrome (wrs) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (meds) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. |
| PubMedID- 21835305 | microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. |
| PubMedID- 24456803 | The supposed tumor suppressor gene wwox is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. |
| 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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