| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000211 | Trismus | "Limitation in the ability to open the mouth." [HPO:curators] |
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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:0000275 | Narrow face | |
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| HP:0000276 | Long face | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000325 | Triangular facies | |
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| HP:0000343 | Long philtrum | |
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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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000465 | Webbed neck | |
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| HP:0000467 | Neck muscle weakness | |
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| HP:0000470 | Short neck | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0001032 | Aplasia of the distal interphalangeal creases | "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] |
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| HP:0001181 | Adducted thumbs | |
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| HP:0001188 | Clenched hands | |
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| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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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:0001315 | Reduced reflexes | |
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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:0001349 | Facial diplegia | "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001374 | Congenital hip dislocation | |
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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:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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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:0001612 | Weak cry | |
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| HP:0001644 | Dilated cardiomyopathy | |
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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:0001838 | Vertical talus | |
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| HP:0001840 | Metatarsus varus | "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc s (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline." [HPO:curators] |
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| HP:0001848 | Calcaneovalgus deformities | |
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| HP:0001883 | Talipes | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002058 | Myopathic facies | "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002355 | Difficulty walking | |
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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:0002751 | Kyphoscoliosis | |
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| HP:0002792 | Reduced vital capacity | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003049 | Ulnar deviation of the wrist | |
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| HP:0003121 | Limb contractures | |
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| HP:0003184 | Decreased hip abduction | |
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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:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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| HP:0003273 | Hip contractures | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003391 | Gower sign | "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0003577 | Onset at birth | |
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| HP:0003687 | Centralized nuclei | |
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| HP:0003690 | Limb muscle weakness | "Weakness of the muscles of the arms and legs." [HPO:curators] |
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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:0003755 | Type 1 fibers are at least 12% smaller than type 2 fibers | "The presence of abnormal muscle fiber size such that type 1 fibers are at least 12% smaller than type 2 fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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| HP:0003798 | Nemaline bodies | "Nemaline rods are abnormal bodies are abnormal that can occur in skeletal muscle fibers. THe rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, pmid:11333380] |
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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:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005272 | Prominent nasolabial folds | |
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| HP:0005684 | Distal arthrogryposis | |
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| HP:0006109 | Aplasia of the interphalangeal creases | "Absence of the interphalangeal creases of the fingers." [HPO:curators] |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009465 | Ulnar deviation of fingers | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0009742 | Stiff shoulders | "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [HPO:curators] |
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| HP:0010557 | Overlapping fingers | "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [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:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100830 | Round ear | |
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