PedAM
Pediatric Disease Annotations & Medicines
| Disease | microcephaly |
| Phenotype | C0234166|hyperekplexia |
| Sentences | 1 |
| PubMedID- 23101555 | Conclusions: we present these cases as a novel syndrome of lethal familial autosomal recessive hyperekplexia associated with microcephaly and severe brain malformation. |
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