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| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.0 | POLE |
Tiong Tan gene: POLE was added gene: POLE was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to PMID: 30503519 Phenotypes for gene: POLE were set to INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY MIM 618336 |
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