- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Onset: Adult onset (HP:0003581). (OMIM:201910)
- Elevated circulating 21-deoxycortisol concentration (HP:6000516): The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:34780778)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:201910)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: IEA. (OMIM:201910)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:201910)
- 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: IEA. (OMIM:201910)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:201910)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. (OMIM:201910)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:201910)
- Adrenogenital syndrome (HP:0000840): Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. Evidence: IEA. (OMIM:201910)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: IEA. (OMIM:201910)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: IEA. (OMIM:201910)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:201910)
These phenotypes are associated with the disease classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (OMIM:201910).