Phenotypes associated with the disease congenital amegakaryocytic thrombocytopenia 1 (OMIM:604498):
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: TAS. (OMIM:604498)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:604498)
- Amegakaryocytic thrombocytopenia (HP:0004859): Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. Evidence: TAS. (OMIM:604498)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: IEA. (OMIM:604498)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. (OMIM:604498)
- Megakaryocytopenia (HP:0005548): A reduced count of megakaryocytes. Evidence: TAS. (OMIM:604498)