| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000338 | Hypomimic face | |
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| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000643 | Blepharospasm | "An involuntary recurrent spasm of both eyelids." [HPO:curators] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000712 | Emotional lability | |
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| HP:0000726 | Dementia | |
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| HP:0000734 | Disinhibition | |
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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: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:0001264 | Spastic diplegia | "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] |
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| HP:0001266 | Choreoathetosis | |
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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:0001300 | Parkinsonism | |
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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:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001618 | Dysphonia | |
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| HP:0001808 | Fragile nails | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002019 | Constipation | |
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| HP:0002063 | Rigidity | |
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| HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
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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:0002180 | Neurodegeneration | |
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| HP:0002300 | Mutism | |
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| HP:0002310 | Orofacial dyskinesia | |
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| HP:0002356 | Writer s cramp | |
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| HP:0002376 | Developmental regression | |
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| HP:0002425 | Anarthria | "A defect in the motor ability that enables speech." [HPO:curators] |
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| HP:0002463 | Language impairment | |
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| HP:0002615 | Hypotension | |
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| HP:0002829 | Arthralgia | |
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| HP:0003281 | Increased serum ferritin | |
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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:0003676 | Progressive disorder | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0007007 | Brain tissue shows cavitation of the basal ganglia | |
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| HP:0008024 | Nuclear cataract | "A type of `congenital cataract` (HP:0000519) in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear." [HPO:probinson] |
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| HP:0010693 | Pulverulent Cataract | "A kind of `congenital cataract` (HP:0000519) that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO:probinson] |
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| HP:0012049 | Laryngeal dystonia | "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] |
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| HP:0012343 | Decreased serum ferritin | "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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