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Disorders of immune dysregulation v2.11 Krithika Murali Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Disorders of immune dysregulation v2.11 ISCA-37446-Loss Krithika Murali Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Disorders of immune dysregulation. Sources: ClinGen,Expert Review Green
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies