| 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:0000238 | Hydrocephalus | |
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| HP:0000657 | Oculomotor apraxia | |
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| 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] |
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| HP:0000727 | Frontal lobe dementia | |
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| HP:0000734 | Disinhibition | |
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| HP:0000737 | Irritability | |
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| HP:0000751 | Personality changes | |
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| HP:0000757 | Lack of insight | |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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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: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: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:0001376 | Decreased mobility of joints | |
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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:0002059 | Cerebral atrophy | |
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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:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002127 | Upper motor neuron abnormality | |
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| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002171 | Gliosis | |
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| HP:0002186 | Apraxia | "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators] |
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| HP:0002340 | Caudate atrophy | |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002376 | Developmental regression | |
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| HP:0002476 | Primitive reflexes (palmomental, snout, glabellar) | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002653 | Bone pain | |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002829 | Arthralgia | |
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| HP:0003447 | Axonal loss | |
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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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0009124 | Abnormality of adipose tissue | "An abnormality of adipose (or fat) tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] |
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| HP:0010524 | Agnosia | "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators] |
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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:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012719 | Functional abnormality of the gastrointestinal tract | "Abnormal functionality of the gastrointestinal tract." [HPO:probinson] |
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