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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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HP:0000365 | Hearing loss | |
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HP:0001171 | Ectrodactyly (hands) | |
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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:0001270 | Motor retardation | |
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HP:0001276 | Hypertonia | |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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HP:0001620 | High pitched voice | |
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HP:0001761 | Pes cavus | |
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HP:0002355 | Difficulty walking | |
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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:0002411 | Myokymia | |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002936 | Distal sensory impairment | |
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HP:0003394 | Muscle cramps | |
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HP:0003677 | Slow progression | |
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HP:0003812 | Phenotypic variability | |
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HP:0007256 | Mild pyramidal signs | |
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HP:0009027 | Foot dorsiflexor weakness | |
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