- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: IEA. (OMIM:313900)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: IEA. (OMIM:313900)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:7795648)
- Congenital thrombocytopenia (HP:0001905): Thrombocytopenia with congenital onset. Evidence: PCS. Frequency: 3/3. (PMID:7795648)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: IEA. (OMIM:313900)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: IEA. (OMIM:313900)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: IEA. (OMIM:313900)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: IEA. (OMIM:313900)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: IEA. (OMIM:313900)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: IEA. (OMIM:313900)
- Decreased mean platelet volume (HP:0005537): Average platelet volume below the lower limit of the normal reference interval. Evidence: PCS. Frequency: 3/3. (PMID:7795648)
- Intermittent thrombocytopenia (HP:0004854): Reduced platelet count that occurs sporadically, i.e., it comes and goes. Evidence: IEA. (OMIM:313900)
These phenotypes are associated with the disease thrombocytopenia 1 (OMIM:313900).