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
trigonocephaly
MONDO:0000156
hypercalcemia, infantile
MONDO:0000212
spondylocostal dysostosis
MONDO:0000359
Ochoa syndrome
MONDO:0000463
synostosis
MONDO:0001411