/spondyloepiphyseal dysplasia tarda, autosomal recessive

spondyloepiphyseal dysplasia tarda, autosomal recessive

Rare Disease

MONDO:0010072

Also Known As

autosomal recessive spondyloepiphyseal dysplasia tardaspondyloepiphyseal dysplasia tarda, autosomal recessive

Autosomal recessive form of spondyloepiphyseal dysplasia tarda.

Comprehensive, easy-to-understand information about this condition

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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

3-M syndrome

MONDO:0007477