- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Ataxia (HP:0001251): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Dysarthria (HP:0001260): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Progressive hearing impairment (HP:0001730): A progressive form of hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Demyelinating peripheral neuropathy (HP:0007108): Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Decreased circulating follicle stimulating hormone concentration (HP:0030341): A reduction of the circulating level of follicle-stimulating hormone (FSH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Decreased circulating luteinizing hormone level (HP:0030344): A reduction in the circulating level of luteinizing hormone (LH). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Decreased serum testosterone concentration (HP:0040171). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- EMG: slow motor conduction (HP:0100287): The presence of reduced conduction velocity of motor nerves on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:453533)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:453533)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:453533)
- Central hypothyroidism (HP:0011787): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:453533)
- Hypoinsulinemia (HP:0040216): A decreased concentration of insulin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:453533)
These phenotypes are associated with the disease Polyendocrine-polyneuropathy syndrome (ORPHA:453533).