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autosomal recessive spondylometaphyseal dysplasia, Megarbane type | RareConnect | RareConnect.io

/spondylometaphyseal dysplasia

/severe spondylodysplastic dysplasia

/autosomal recessive spondylometaphyseal dysplasia, Megarbane type

autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Rare Disease

MONDO:0013223

Also Known As

PAM16 spondylodysplastic dysplasiaspondylodysplastic dysplasia caused by mutation in PAM16spondylometaphyseal dysplasia, Megarbane-Dagher-Melike typeSMDMDMautosomal recessive spondylometaphyseal dysplasia, Mégarbané typechondrodysplasia, Megarbane-Dagher-Melki typespondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type

Definition

Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:613320 ↗

Orphanet

Orphanet:401979 ↗

GARD

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