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| Ocular coloboma v1.45 | ISCA-37393-Gain | Ivone Leong commented on Region: ISCA-37393-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular coloboma v1.45 | ISCA-37393-Gain | Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ocular coloboma v1.16 | ISCA-37393-Gain |
Louise Daugherty Region: ISCA-37393-Gain was added Region: ISCA-37393-Gain was added to Ocular coloboma. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764 Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470 |
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