| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000572 | Visual loss | |
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| HP:0000618 | Blindness | |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000802 | Impotence | |
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| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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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:0001258 | Spastic paraplegia | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001283 | Bulbar palsy | "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
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| HP:0001350 | Slurred speech | |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [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:0002070 | Limb ataxia | |
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| HP:0002078 | Truncal ataxia | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002311 | Incoordination | |
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| HP:0002371 | Loss of speech | |
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| HP:0002385 | Paraparesis | |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0003455 | Elevated long chain fatty acids | |
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| HP:0003676 | Progressive disorder | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0008207 | Primary adrenal insufficiency | |
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