- Progressive (HP:0003676, a Human Phenotype Ontology term): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: IEA. (OMIM:231550)
- Orthostatic hypotension (HP:0001278, a Human Phenotype Ontology term): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: IEA. (OMIM:231550)
- Anisocoria (HP:0009916, a Human Phenotype Ontology term): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: TAS. (OMIM:231550)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: TAS. (OMIM:231550)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: IEA. (OMIM:231550)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: PCS. Frequency: 4/17. (PMID:11062474)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/14. (PMID:11062474)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/14. (PMID:11062474)
- Motor axonal neuropathy (HP:0007002, a Human Phenotype Ontology term): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: TAS. (OMIM:231550)
- Hyperpigmentation of the skin (HP:0000953, a Human Phenotype Ontology term): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:231550)
- Adrenocorticotropin receptor defect (HP:0008259, a Human Phenotype Ontology term): Adrenal insufficiency secondary to a defect in the ACTH receptor. Evidence: IEA. (OMIM:231550)
- Decreased circulating aldosterone concentration (HP:0004319, a Human Phenotype Ontology term): Abnormally reduced levels of aldosterone. Evidence: IEA. (OMIM:231550)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: IEA. (OMIM:231550)
- Palmoplantar hyperkeratosis (HP:0000972, a Human Phenotype Ontology term): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: IEA. (OMIM:231550)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:231550)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:231550)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/14. (PMID:11062474)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:231550)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: IEA. (OMIM:231550)
- Achalasia (HP:0002571, a Human Phenotype Ontology term): 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: 17/17. (PMID:11062474)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: IEA. (OMIM:231550)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:231550)
- Decreased circulating cortisol level (HP:0008163, a Human Phenotype Ontology term): Abnormally reduced concentration of cortisol in the blood. Evidence: IEA. (OMIM:231550)
- Abnormality of visual evoked potentials (HP:0000649, a Human Phenotype Ontology term): An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. Evidence: IEA. (OMIM:231550)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:11062474)
- Adrenal insufficiency (HP:0000846, a Human Phenotype Ontology term): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: PCS. Frequency: 15/17. (PMID:11062474)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:231550)
- Alacrima (HP:0000522, a Human Phenotype Ontology term): Absence of tear secretion. Evidence: PCS. Frequency: 27/27. (OMIM:231550;PMID:11062474)
These phenotypes are associated with the disease triple-A syndrome (OMIM:231550, an entry in Online Mendelian Inheritance in Man).