- Hypoplasia of the vagina (HP:0008726): Developmental hypoplasia of the vagina. Evidence: TAS. (OMIM:202010)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. (OMIM:202010)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:202010)
- Long penis (HP:0000040): Penile length more than 2 SD above the mean for age. Evidence: PCS. Frequency: 5/7. (PMID:2022736)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: PCS. Frequency: 4/4. (PMID:2022736)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: PCS. Frequency: 5/6. (PMID:2022736)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: PCS. Frequency: 7/7. (PMID:2022736)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: PCS. Frequency: 7/7. (PMID:2022736)
- Precocious puberty in males (HP:0008185): The onset of puberty before the age of 9 years in boys. Evidence: PCS. Frequency: 5/7. (PMID:2022736)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 8/11. (PMID:2022736)
- 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: PCS. (PMID:2022736)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. (OMIM:202010)
- Elevated serum 11-deoxycortisol (HP:0025436): Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. Evidence: PCS. Frequency: 7/7. (PMID:2022736)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:202010)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: IEA. (OMIM:202010)
- Congenital adrenal hyperplasia (HP:0008258): A type of adrenal hyperplasia with congenital onset. Evidence: IEA. (OMIM:202010)
- Decreased circulating aldosterone concentration (HP:0004319): Abnormally reduced levels of aldosterone. Evidence: PCS. Frequency: 8/8. (PMID:2022736)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: IEA. (OMIM:202010)
- 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:202010)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 5/7. (PMID:2022736)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: IEA. (OMIM:202010)
These phenotypes are associated with the disease congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (OMIM:202010).