| HP:0000365 | Hearing loss | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000764 | Axonal degeneration | |
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| HP:0001152 | Saccadic smooth pursuit | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001260 | Dysarthria | "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." [HPO:curators] |
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| HP:0001262 | Somnolence | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001284 | Areflexia | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001310 | Dysmetria | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "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." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001771 | Achilles tendon contractures | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002073 | Progressive cerebellar ataxia | |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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| HP:0002311 | Incoordination | |
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| HP:0002312 | Clumsiness | |
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| HP:0002317 | Unsteady gait | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002359 | Frequent falls | |
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| HP:0002385 | Paraparesis | |
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| HP:0002395 | Lower limb hyperreflexia | |
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| HP:0002427 | Motor aphasia | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002463 | Language impairment | |
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| HP:0002464 | Spastic dysarthria | |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002503 | Spinocerebellar tract degeneration | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003383 | Onion bulb formations on nerve biopsy | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003445 | EMG shows neuropathic changes | |
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| HP:0003447 | Axonal loss | |
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| HP:0003487 | Babinski sign | "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." [HPO:curators] |
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| HP:0003677 | Slow progression | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0006855 | Cerebellar vermis atrophy | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007149 | Distal muscle atrophy, more severe in the upper limbs | |
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| HP:0007240 | Progressive gait ataxia | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0008944 | Distal lower limb muscle weakness and atrophy | "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators] |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009830 | Peripheral neuropathy | "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." [HPO:curators] |
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| HP:0040078 | Axonal degeneration | |
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| HP:0040083 | Toe walking | |
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| HP:0040129 | Abnormal nerve conduction velocity | |
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| HP:0200101 | Decreased/absent ankle reflexes | |
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