| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000505 | Impaired vision | |
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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:0000648 | Optic atrophy | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0001123 | Visual field defects | |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [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:0001310 | Dysmetria | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001332 | Dystonia | "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." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001761 | Pes cavus | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [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:0002141 | Gait imbalance | |
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| HP:0002495 | Impaired vibratory sense | "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators] |
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| HP:0002522 | Areflexia in lower limbs | |
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| HP:0002527 | Falls | |
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| HP:0002540 | Inability to walk | |
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| HP:0002546 | Incomprehensible speech | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0003115 | Abnormal EKG | |
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| HP:0003116 | Abnormal echocardiogram | |
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| HP:0003209 | Low pyruvate carboxylase activity in liver and cultured fibroblasts | |
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| HP:0003232 | Mitochondrial malic enzyme reduced | |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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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:0003621 | Juvenile onset | |
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| HP:0007010 | Poor fine motor coordination | |
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| HP:0007078 | Decreased or absent sensory nerve action potentials | |
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| HP:0007663 | Decreased central vision | |
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| HP:0009130 | Amyotrophy involving the musculature of the hand | "Muscular atrophy involving the muscles of the hand." [HPO:curators] |
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| HP:0010831 | Impaired proprioception | "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] |
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| HP:0010873 | Cervical spinal cord atrophy | "Atrophy of the cervical segment of the spinal cord." [HPO:probinson] |
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| HP:0030183 | Impaired visually enhanced vestibulo-ocular reflex | "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular
interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)." [HPO:probinson, pmid:16954982] |
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