| HP:0000083 | Renal failure | |
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| HP:0000556 | Retinal dystrophy | |
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| HP:0000572 | Visual loss | |
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| HP:0000712 | Emotional lability | |
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| HP:0000750 | Impaired language development | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [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:0001878 | Hemolytic anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0002076 | Migraine | |
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| HP:0003198 | Myopathy | |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003546 | Exercise intolerance | |
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| HP:0003710 | Muscle cramps with exercise | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0008305 | Myoglobinuria, exercise-induced | |
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