| HP:0000232 | Everted lower lip | |
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| HP:0000244 | Brachyturricephaly | |
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| HP:0000278 | Retrognathia | |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000339 | Pugilistic facies | |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0001169 | Broad hands | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001284 | Areflexia | |
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| HP:0001371 | Contractures | |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001714 | Ventricular hypertrophy | |
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| HP:0001821 | Broad nails | |
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| HP:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0001836 | Camptodactyly (feet) | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002359 | Frequent falls | |
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| HP:0002515 | Waddling gait | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
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| HP:0002808 | Kyphosis | |
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| HP:0002996 | Limited elbow movement | |
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| HP:0003198 | Myopathy | |
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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:0003306 | Spinal rigidity | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003418 | Back pain | |
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| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0003691 | Scapular winging | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003704 | Scapuloperoneal weakness | |
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| HP:0003715 | Muscle biopsy shows myofibrillar myopathy | |
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| HP:0003805 | Rimmed vacuoles | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0008075 | Progressive pes cavus | |
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| HP:0008141 | Dislocation of toes | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009042 | Marked muscular hypertrophy | "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] |
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| HP:0009054 | Scapuloperoneal myopathy | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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