| 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:0000298 | Mask-like facies | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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| HP:0000544 | External ophthalmoplegia | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002111 | Restrictive respiratory insufficiency | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003547 | Shoulder girdle muscle weakness | "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] |
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| HP:0003677 | Slow progression | |
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| HP:0003691 | Scapular winging | |
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| HP:0003724 | Shoulder girdle muscle atrophy | "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] |
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| HP:0007763 | Retinal telangiectasia | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0008970 | Scapulohumeral muscular dystrophy | |
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| HP:0008981 | Muscular hypertrophy, esp calf muscles | "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators] |
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| HP:0009023 | Abdominal wall muscle weakness | |
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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:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0012231 | Exudative retinal detachment | "A type of retinal detachment associated with leakage of fluid (exudate) from under the retina." [HPO:probinson] |
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| HP:0012473 | Tongue atrophy | "Wasting of the `tongue` (FMA:54640)." [ORCID:0000-0001-5208-3432] |
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| HP:0030664 | Beevor s sign | "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus." [PMID:2146943] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100540 | Palpebral edema | |
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