| 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:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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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:0000726 | Dementia | |
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| HP:0000736 | Short attention span | "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] |
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| HP:0000738 | Hallucinations | |
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| HP:0000746 | Delusions | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001082 | Cholecystitis | |
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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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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:0001265 | Hyporeflexia | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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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:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001522 | Death in infancy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001903 | Anemia | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [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:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002283 | Diffuse brain atrophy | |
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| HP:0002312 | Clumsiness | |
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| HP:0002354 | Memory impairment | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002359 | Frequent falls | |
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| HP:0002371 | Loss of speech | |
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| HP:0002376 | Developmental regression | |
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| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
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| HP:0002415 | Leukodystrophy | |
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| HP:0002478 | Progressive spastic quadriplegia | |
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| HP:0002483 | Bulbar signs | |
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| HP:0002487 | Hyperkinesis | |
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| HP:0002518 | Periventricular white matter changes | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002871 | Central apnea | "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003444 | EMG shows chronic denervation | |
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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:0003577 | Onset at birth | |
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| HP:0003593 | Early onset | |
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| HP:0003819 | Death in childhood | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004343 | Abnormality of glycosphingolipid metabolism | |
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| HP:0004355 | Abnormality of proteoglycan metabolism | |
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| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
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| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
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| HP:0007133 | Progressive peripheral neuropathy | |
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| HP:0007240 | Progressive gait ataxia | |
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| HP:0007266 | Dysmyelination of the brain | |
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| HP:0007272 | Progressive psychomotor deterioration | |
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| HP:0007305 | Cns demyelination | |
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| HP:0007663 | Decreased central vision | |
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| HP:0008619 | Hearing loss, sensorineural, bilateral | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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| HP:0011169 | Generalized clonic seizures | "Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec." [HPO:jalbers] |
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| HP:0011813 | Increased cerebral lipofuscin | "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:9531959] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012433 | Abnormal social behavior | "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] |
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| HP:0025013 | Decerebrate rigidity | "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [UToronto:chum] |
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| HP:0030081 | Punctate periventricular T2 hyperintense foci | "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter." [] |
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| HP:0031358 | Vegetative state | "Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)." [] |
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| HP:0040083 | Toe walking | |
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| HP:0100575 | Neoplasm of the gallbladder | "The presence of a `neoplasm` (MPATH:218) of the `gallbladder` (FMA:7202)." [HPO:probinson] |
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| HP:0100753 | Schizophrenia | "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] |
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