| HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| HP:0000365 | Hearing loss | |
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| HP:0000737 | Irritability | |
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| HP:0000750 | Impaired language development | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001308 | Tongue fasciculations | |
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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:0001761 | Pes cavus | |
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| HP:0001963 | Abnormal speech discrimination | "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002317 | Unsteady gait | |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002375 | Hypokinesia | |
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| HP:0002376 | Developmental regression | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002490 | Increased CSF lactate | "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] |
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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:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003542 | Increased serum pyruvate | "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators] |
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| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
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| HP:0004454 | abnormal middle ear reflexes | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
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| HP:0010994 | Abnormality of the striatum | "Abnormality of the striatum (FMA:77618)." [HPO:probinson] |
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| HP:0011343 | Moderate global developmental delay | "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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