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An autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.




Matrilin-3 related SEMD
SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia bowed-legs type
Spondyloepimetaphyseal dysplasia matrilin-3 type
Spondylo-epi-metaphyseal dysplasia matrilin 3 type
Spondylometaepiphyseal dysplasia matrilin-3 type




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