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| DDG2P v4.10 | ESAM | Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813; Phenotypes: ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ESAM |
Achchuthan Shanmugasundram gene: ESAM was added gene: ESAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |
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