| 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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000157 | Abnormality of the tongue | "Any abnormality of the tongue." [HPO:curators] |
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| HP:0000273 | Facial grimacing | |
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| HP:0000298 | Mask-like facies | |
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| HP:0000488 | Retinopathy | |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000543 | Pale optic disks | |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000618 | Blindness | |
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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:0000658 | Eyelid apraxia | |
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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:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000722 | Obsessive-compulsive disorder | |
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| HP:0000726 | Dementia | |
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| HP:0000737 | Irritability | |
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| HP:0000752 | Hyperactivity | |
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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: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: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: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:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001927 | Red cell acanthocytosis | "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators] |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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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:0002179 | Opisthotonus | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002283 | Diffuse brain atrophy | |
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| HP:0002304 | Akinesia | |
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| HP:0002310 | Orofacial dyskinesia | |
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| HP:0002312 | Clumsiness | |
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| HP:0002359 | Frequent falls | |
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| HP:0002451 | Limb dystonia | |
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| HP:0002454 | MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ( eye of the tiger sign) | |
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| HP:0002533 | Abnormal posturing | |
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| HP:0002540 | Inability to walk | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0003198 | Myopathy | |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003563 | Hypobetalipoproteinemia | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003677 | Slow progression | |
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| HP:0003678 | Rapidly progressive | |
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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:0007132 | Pallidal degeneration | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007313 | Cerebral degeneration | |
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| HP:0007325 | Generalized dystonia | |
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| HP:0008760 | Violent behavior | |
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| HP:0008770 | Obsessive-compulsive trait | "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [HPO:curators] |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011951 | Aspiration pneumonia | "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
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| HP:0012048 | Oromandibular dystonia | "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] |
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| HP:0012473 | Tongue atrophy | "Wasting of the `tongue` (FMA:54640)." [ORCID:0000-0001-5208-3432] |
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| HP:0012675 | Iron accumulation in brain | "An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0030216 | Inertia | "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)." [ICM:PCaroppo] |
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| HP:0040083 | Toe walking | |
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| HP:0100034 | Motor tics | "Movement-based tics affecting discrete muscle groups." [HPO:sdoelken] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100710 | Impulsivity | |
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