- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: PCS. Frequency: 2/2. (PMID:27660747;PMID:16868047)
- Achalasia (HP:0002571): A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. Evidence: PCS. Frequency: 1/2. (PMID:27660747;PMID:16868047)
- Profound intellectual disability (HP:0002187): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Abnormal circulating renin concentration (HP:0040084): A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. Evidence: PCS. Frequency: 0/1. (PMID:16868047)
- Myoclonic seizure (HP:0032794): A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Thin corpus callosum (HP:0033725): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:27660747;PMID:16868047)
- Focal motor seizure (HP:0011153): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Recurrent hypoglycemia (HP:0001988): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 11/11. (PMID:16868047;PMID:15654338)
- 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:15654338)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: PCS. Frequency: 1/1. (PMID:27660747)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:27660747)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 1/2. (PMID:27660747;PMID:16868047)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 1/1. (PMID:16868047)
These phenotypes are associated with the disease glucocorticoid deficiency 2 (OMIM:607398).