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Skeletal dysplasia v0.0 | AMER1 |
Zornitza Stark gene: AMER1 was added gene: AMER1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: AMER1 were set to Osteopathia striata with cranial sclerosis 300373; Osteopathia striata with cranial sclerosis 300373 |