| 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:0001249 | Mental retardation | |
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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: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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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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:0002093 | Respiratory insufficiency | |
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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:0002398 | Degeneration of anterior horn cells | |
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| HP:0002803 | Congenital contractures | |
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| HP:0003445 | EMG shows neuropathic changes | |
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| HP:0003577 | Onset at birth | |
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| HP:0003676 | Progressive disorder | |
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| HP:0006850 | Hypoplasia of the ventral pons | |
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| HP:0006999 | Cell loss and gliosis in the basal ganglia | |
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| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0012110 | Hypoplasia of the pons | "Underdevelopment of the `pons` (FMA:67943)." [HPO:probinson] |
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| HP:0200147 | Neuronal loss in basal ganglia | |
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