| 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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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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: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:0001425 | Heterogeneous | |
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| HP:0001612 | Weak cry | |
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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:0002098 | Respiratory distress | |
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| HP:0002715 | Immunological abnormality | |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators] |
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| HP:0002882 | Sudden episodic apnea, severe, may cause death | "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:curators] |
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| HP:0003397 | Generalized hypotonia due to defect at the neuromuscular junction | |
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| HP:0003402 | Decreased miniature endplate potentials (MEPP) | |
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| HP:0003403 | EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation | |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003554 | Type 2 muscle fiber atrophy | "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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