/autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect

autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect

Rare Disease

MONDO:0033850

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immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133

hypercalcemia, infantile

MONDO:0000212

Ochoa syndrome

MONDO:0000463

autosomal recessive Ehlers-Danlos syndrome, vascular type

MONDO:0002014

hydrolethalus syndrome

MONDO:0006037

familial benign copper deficiency

MONDO:0007368