Thrombocytopenia 8, with Dysmorphic Features and Developmental Delay (THC8)

Alias:

Actb-Associated Syndromic Thrombocytopenia

Thrombocytopenia, Autosomal Dominant, 8

Actb-Ast

Thc8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thrombocytopenia 8, with Dysmorphic Features and Developmental Delay, also known as actb-associated syndromic thrombocytopenia, is related to baraitser-winter syndrome 1 and thrombocytopenia. An important gene associated with Thrombocytopenia 8, with Dysmorphic Features and Developmental Delay is ACTB (Actin Beta). Affiliated tissues include neutrophil and brain.

Related ID：

MALACARDS：THR129

OMIM：620475