Autosomal recessive form of craniometaphyseal dysplasia.
Comprehensive, easy-to-understand information about this condition
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immunodeficiency-centromeric instability-facial anomalies syndrome
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hypercalcemia, infantile
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Ochoa syndrome
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autosomal recessive Ehlers-Danlos syndrome, vascular type
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hydrolethalus syndrome
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craniometaphyseal dysplasia, autosomal dominant
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