/macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Rare Disease

MONDO:0014757

Also Known As

Takenouchi-Kosaki syndromeTAKENOUCHI-Kosaki syndromeTKSmacrothrombocytopenia and intellectual disability syndromemacrothrombocytopenia and mental retardation syndrome

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Associated Genes

CDC42 ↗

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

External Resources

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MONDO:0000508

congenital anemia

MONDO:0000577

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MONDO:0000816

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macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases