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| Hereditary neuropathy or pain disorder v8.38 | PIKFYVE |
Alexander Rossor gene: PIKFYVE was added gene: PIKFYVE was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: PIKFYVE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIKFYVE were set to 42872583 Phenotypes for gene: PIKFYVE were set to Developmental delay; axonal neuropathy; spasticity; epilepsy; nystagmus; sensorineural haring loss; hypomyelination; thin corpus callosum Review for gene: PIKFYVE was set to AMBER Added comment: Recessive variants n 3 families with similar phenotype. NCS /EMG only done in one family and showed aneuopathy in two siblings Sources: Other |
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