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

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.