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:0000014 | Abnormality of the bladder | |
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HP:0000183 | Difficulty in tongue movements | |
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HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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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:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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HP:0001239 | Wrist contractures | |
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HP:0001249 | Mental retardation | |
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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: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:0001258 | Spastic paraplegia | |
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HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
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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:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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HP:0001344 | Absent speech development | |
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HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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HP:0001761 | Pes cavus | |
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HP:0002010 | Narrow maxilla | |
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HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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HP:0002064 | Spastic gait | |
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HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0002127 | Upper motor neuron abnormality | |
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HP:0002141 | Gait imbalance | |
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HP:0002193 | Pseudobulbar behavioral symptoms | "Individuals with `Pseudobulbar signs` (HP:0002200) often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] |
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HP:0002194 | Delayed gross motor development | |
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HP:0002355 | Difficulty walking | |
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HP:0002371 | Loss of speech | |
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HP:0002381 | Aphasia | |
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HP:0002463 | Language impairment | |
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HP:0002464 | Spastic dysarthria | |
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HP:0002509 | Limb hypertonia | |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002808 | Kyphosis | |
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HP:0002987 | Elbow contractures | |
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HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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HP:0003273 | Hip contractures | |
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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:0003677 | Slow progression | |
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HP:0005830 | Partial flexion contractures of fingers and toes | |
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HP:0006380 | Knee flexion deformities | |
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HP:0006466 | Contractures of the ankles | |
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HP:0006986 | Upper limb spasticity | |
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HP:0007024 | Pseudobulbar paralysis | "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken] |
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HP:0007256 | Mild pyramidal signs | |
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HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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HP:0012662 | Parietal hypometabolism in FDG PET | "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:15073255] |
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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:0012785 | Flexion contracture of finger | "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] |
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HP:0030904 | Glabellar reflex | "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson s sign." [] {comment="HPO:probinson"} |
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HP:0040083 | Toe walking | |
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HP:0045037 | Abnormality of jaw muscles | |
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