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| Macrocephaly_Megalencephaly v0.62 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.59 | AGA | Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.0 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASPA was set to Unknown |
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