Thrombocytopenia 8, with dysmorphic features and developmental delay

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;

Détails

Origin ID

620475;

UMLS CUI

C5882677;

Genes related to phenotype
- Actin, beta [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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