| 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] |
Show
|
| HP:0000338 | Hypomimic face | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000571 | Hypometric saccades | |
Show
|
| HP:0000572 | Visual loss | |
Show
|
| HP:0000605 | Supranuclear gaze palsy | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000649 | Abnormality of vision evoked potentials | |
Show
|
| HP:0000658 | Eyelid apraxia | |
Show
|
| HP:0000712 | Emotional lability | |
Show
|
| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
Show
|
| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000751 | Personality changes | |
Show
|
| HP:0000752 | Hyperactivity | |
Show
|
| HP:0000762 | Decreased nerve conduction velocities | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0001268 | Mental deterioration | |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001276 | Hypertonia | |
Show
|
| HP:0001284 | Areflexia | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001300 | Parkinsonism | |
Show
|
| HP:0001310 | Dysmetria | |
Show
|
| 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] |
Show
|
| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001884 | Talipes calcaneovalgus | "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] |
Show
|
| HP:0001939 | Metabolism abnormality | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002059 | Cerebral atrophy | |
Show
|
| HP:0002062 | Abnormality of the pyramidal tracts | "An abnormality of the pyramidal system of motor neurons, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
Show
|
| HP:0002063 | Rigidity | |
Show
|
| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
Show
|
| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0002145 | Frontotemporal dementia | |
Show
|
| HP:0002171 | Gliosis | |
Show
|
| HP:0002172 | Postural instability | |
Show
|
| HP:0002180 | Neurodegeneration | |
Show
|
| HP:0002185 | Neurofibrillary tangles | |
Show
|
| HP:0002283 | Diffuse brain atrophy | |
Show
|
| HP:0002312 | Clumsiness | |
Show
|
| HP:0002317 | Unsteady gait | |
Show
|
| HP:0002376 | Developmental regression | |
Show
|
| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
Show
|
| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
Show
|
| HP:0002548 | Favorable response to levodopa | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003236 | Elevated serum creatine phosphokinase | |
Show
|
| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
Show
|
| HP:0003444 | EMG shows chronic denervation | |
Show
|
| 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] |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0003678 | Rapidly progressive | |
Show
|
| HP:0003812 | Phenotypic variability | |
Show
|
| HP:0004326 | Cachexia | |
Show
|
| HP:0004373 | Focal dystonia | |
Show
|
| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
Show
|
| HP:0007058 | Generalized cerebral hypoplasia/atrophy | |
Show
|
| HP:0007153 | Progressive extrapyramidal movement disorder | |
Show
|
| HP:0007256 | Mild pyramidal signs | |
Show
|
| HP:0007772 | Impaired smooth pursuit in adult patients | |
Show
|
| HP:0010522 | Dyslexia | "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:curators] |
Show
|
| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0011999 | Paranoia | "A persecutory delusion of supposed hostility of others." [HPO:probinson] |
Show
|
| HP:0012675 | Iron accumulation in brain | "An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson] |
Show
|
| HP:0025262 | Stiff hip | "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity." [] |
Show
|
| HP:0040081 | Abnormal levels of creatine kinase in blood | |
Show
|
| HP:0100710 | Impulsivity | |
Show
|
