- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: IEA. (DECIPHER:16)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: IEA. (DECIPHER:16)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: IEA. (DECIPHER:16)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: IEA. (DECIPHER:16)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: IEA. (DECIPHER:16)
These phenotypes are associated with the disease 22q11.2 deletion syndrome (DECIPHER:16).