Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Alias:

Achondroplasia-Severe Combined Immunodeficiency Syndrome

Achondroplasia-Swiss Type Agammaglobulinemia Syndrome

Immunodeficiency-Short Limb Dwarfism Syndrome

Short Limb Skeletal Dysplasia with Scid

Achondroplasia-Scid Syndrome

Achondroplasia, So-Called, and Severe Combined Immunodeficiency

Achondroplasia Swiss Type Agammaglobulinemia

Immunodeficiency with Short Limb Dwarfism

Slsd with Scid

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Gene & Mutation

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Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia-severe combined immunodeficiency syndrome, is related to achondroplasia and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency. Affiliated tissues include pancreas and thymus, and related phenotypes are recurrent respiratory infections and lymphopenia

Related ID：

MALACARDS：SHR096

OMIM：200900