- Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460): Absence or underdevelopment of the musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Abnormal nerve conduction velocity (HP:0040129). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2926)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2926)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2926)
- Abnormality of temperature regulation (HP:0004370): An abnormality of temperature homeostasis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2926)
These phenotypes are associated with the disease Digital extensor muscle aplasia-polyneuropathy (ORPHA:2926).