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BabyScreen+ newborn screening v1.114 | NSDHL | Tommy Li Added phenotypes CHILD syndrome; CK syndrome for gene: NSDHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CK syndrome; CHILD syndrome |