| 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:0000622 | Blurred vision | |
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| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
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| HP:0000750 | Impaired language development | |
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| HP:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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| HP:0001188 | Clenched hands | |
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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: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:0001266 | Choreoathetosis | |
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| HP:0001270 | Motor retardation | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001276 | Hypertonia | |
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| HP:0001328 | Learning disability | |
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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:0001350 | Slurred speech | |
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| HP:0002018 | Nausea | |
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| HP:0002064 | Spastic gait | |
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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:0002076 | Migraine | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002131 | Ataxia, episodic | |
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| HP:0002172 | Postural instability | |
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| HP:0002305 | Athetosis | "Athetosis (from the Greek word for changeable or unfixed ) refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators] |
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| HP:0002312 | Clumsiness | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002356 | Writer s cramp | |
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| HP:0002370 | Poor coordination | |
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| HP:0002411 | Myokymia | |
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| HP:0002486 | Myotonia | "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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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:0003552 | Muscle stiffness | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003803 | Type 1 muscle fiber predominance | "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0005461 | Craniofacial disproportion | |
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| HP:0008981 | Muscular hypertrophy, esp calf muscles | "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators] |
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| HP:0011157 | Auras | "Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure." [DDD:ssisodiya, HPO:jalbers] |
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| HP:0030051 | Tip-toe gait | "An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait." [pmid:24757457] |
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| HP:0100022 | Abnormality of movement | "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] |
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| HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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