A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
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
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hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
autosomal recessive Ehlers-Danlos syndrome, vascular type
MONDO:0002014
hydrolethalus syndrome
MONDO:0006037
3-M syndrome
MONDO:0007477