/severe combined immunodeficiency due to CARMIL2 deficiency

severe combined immunodeficiency due to CARMIL2 deficiency

Rare Disease

MONDO:0029134

Also Known As

immunodeficiency 58IMD58

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133

hypercalcemia, infantile

MONDO:0000212

Ochoa syndrome

MONDO:0000463

recombinase activating gene 1 deficiency

MONDO:0000572

recombinase activating gene 2 deficiency

MONDO:0000573

autosomal recessive Ehlers-Danlos syndrome, vascular type

MONDO:0002014