A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous m...
Comprehensive, easy-to-understand information about this condition
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.