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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