Preferred Label : Thrombocytopenia 8, with dysmorphic features and developmental delay;
Symbol : THC8;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Thrombocytopenia, autosomal dominant, 8; Actb-associated syndromic thrombocytopenia; ACTB-AST;
Prefixed ID : #620475;
Origin ID : 620475;
UMLS CUI : C5882677;
Genes related to phenotype
Semantic type(s)