| 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: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:0000467 | Neck muscle weakness | |
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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:0001284 | Areflexia | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0003391 | Gower sign | "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
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| HP:0003677 | Slow progression | |
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| HP:0003789 | Minicore (multicore) myopathy | |
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| HP:0003798 | Nemaline bodies | "Nemaline rods are abnormal bodies are abnormal that can occur in skeletal muscle fibers. THe rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, pmid:11333380] |
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