- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 4/5. (PMID:23297365)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 6/8. (PMID:25864721)
- Hand muscle weakness (HP:0030237): Reduced strength of the musculature of the hand. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/5. (PMID:23297365)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/4. (PMID:25864721)
- Steppage gait (HP:0003376): An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/4. (PMID:25864721)
- 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: PCS. Frequency: 5/5. (PMID:23297365)
- 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: PCS. Frequency: 2/8. (PMID:25864721)
- Decreased Achilles reflex (HP:0009072): Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 1/8. (PMID:25864721)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/5. (PMID:23297365)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/5. (PMID:23297365)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. (PMID:23297365)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:23297365)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: PCS. Frequency: 2/5. (PMID:23297365)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: PCS. Frequency: 5/8. (PMID:25864721)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 3/8. (PMID:25864721)
- Impaired distal vibration sensation (HP:0006886): A decrease in the ability to perceive vibration in the distal portions of the limbs. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Impaired distal vibration sensation (HP:0006886): A decrease in the ability to perceive vibration in the distal portions of the limbs. Evidence: PCS. Frequency: 2/8. (PMID:25864721)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:23297365)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 0/8. (PMID:25864721)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 5/5. (PMID:23297365)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 4/8. (PMID:25864721)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease X-linked dominant 6 (OMIM:300905).