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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.114 | ABCC9 | Ivone Leong Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome to Hypertrichotic osteochondrodysplasia, OMIM:239850; Cantu syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 22610116; 22608503 Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome Review for gene: ABCC9 was set to GREEN Added comment: Neonatal macrosomia is a key feature of this syndrome. Sources: Expert list |
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