| 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: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:0000467 | Neck muscle weakness | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001283 | Bulbar palsy | "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001604 | Vocal cord paresis | |
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| HP:0001605 | Vocal cord paralysis | |
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| HP:0001618 | Dysphonia | |
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| HP:0001761 | Pes cavus | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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| HP:0002355 | Difficulty walking | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002808 | Kyphosis | |
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| HP:0003674 | Age of onset | |
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| HP:0003677 | Slow progression | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010307 | Stridor | "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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