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:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
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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:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000411 | Protruding ears | |
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HP:0000470 | Short neck | |
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HP:0000473 | Torticollis | |
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HP:0000565 | Esotropia | |
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HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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HP:0001181 | Adducted thumbs | |
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HP:0001238 | Slender fingers | "Digits are disproportionaly narrow (reduced girth)." [HPO:curators] |
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HP:0001270 | Motor retardation | |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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HP:0001371 | Contractures | |
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HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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HP:0001388 | Joint laxity | |
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HP:0001508 | Failure to thrive | |
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HP:0001533 | Asthenic habitus | "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] |
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HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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HP:0002359 | Frequent falls | |
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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:0002747 | Respiratory insufficiency due to muscle weakness | |
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HP:0002783 | Recurrent lower respiratory tract infections | |
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HP:0002808 | Kyphosis | |
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HP:0002827 | Dislocated hips | |
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HP:0002877 | Nocturnal hypoventilation | |
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HP:0002878 | Early respiratory failure | |
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HP:0002987 | Elbow contractures | |
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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:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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HP:0003325 | Limb-girdle muscle weakness | "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] |
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HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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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:0003593 | Early onset | |
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HP:0003676 | Progressive disorder | |
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HP:0003677 | Slow progression | |
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HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
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HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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HP:0003713 | Muscle fiber necrosis | "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] |
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HP:0003741 | Congenital muscular dystrophy | |
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HP:0003803 | Type 1 muscle fiber predominance | "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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HP:0003828 | Variable expressivity | |
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HP:0004326 | Cachexia | |
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HP:0005072 | Hyperextensibility at wrists | "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators] |
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HP:0005988 | Torticollis, congenital | |
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HP:0006149 | Increased laxity of fingers | |
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HP:0006380 | Knee flexion deformities | |
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HP:0006460 | Increased laxity of ankles | |
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HP:0006466 | Contractures of the ankles | |
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HP:0007502 | Follicular hyperkeratosis | |
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HP:0008081 | Valgus foot deformity | |
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HP:0008180 | Mildly elevated creatine phosphokinase | |
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HP:0008872 | Feeding problems in infancy | |
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HP:0009113 | Diaphragmatic weakness | |
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HP:0010511 | Increased length of toes | "The presence of abnormally long toes." [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:0100297 | Increased endomysial connective tissue | |
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HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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