Phenotypes associated with the disease arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome (OMIM:108145):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:108145)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 2/3. (PMID:23487782)
- Absent phalangeal crease (HP:0006109): Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). Evidence: IEA. (OMIM:108145)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: IEA. (OMIM:108145)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: IEA. (OMIM:108145)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:108145)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Short stature (HP:0004322): 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). Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Decreased muscle mass (HP:0003199). Evidence: IEA. (OMIM:108145)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 1/3. (PMID:23487782)
- Retinal fold (HP:0008052): A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. Evidence: PCS. Frequency: 1/2. (PMID:23487782)
- Limited wrist extension (HP:0006251). Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Reduced forced expiratory volume in one second (HP:0032342): An abnormal reduction in the amount of air a person can forcefully expel in one second. Evidence: PCS. Frequency: 2/2. (PMID:23487782)
- Firm muscles (HP:0003725): A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement). Evidence: IEA. (OMIM:108145)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:108145)
- High palate (HP:0000218): 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). Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: IEA. (OMIM:108145)
- Duane anomaly (HP:0009921): A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction. Evidence: PCS. Frequency: 1/1. (PMID:23487782)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: IEA. (OMIM:108145)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/3. (PMID:23487782)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: PCS. Frequency: 2/2. (PMID:23487782)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: IEA. (OMIM:108145)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: IEA. (OMIM:108145)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:23487782)
- Decreased facial expression (HP:0004673): A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. Evidence: PCS. Frequency: 6/6. (PMID:23487782)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Distal arthrogryposis (HP:0005684): An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:23487782)
- Recurrent patellar dislocation (HP:0005001): Patellar dislocation occurring repeated times. Evidence: PCS. Frequency: 1/2. (PMID:23487782)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Decreased palmar creases (HP:0006184): Poorly defined or shallow palmar creases. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Keratoglobus (HP:0001119): Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. Evidence: IEA. (OMIM:108145)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: PCS. Frequency: 3/3. (PMID:23487782)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:108145)
- Congenital finger flexion contractures (HP:0005879): Multiple bent (flexed) finger joints that cannot be straightened actively or passively. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:23487782)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: PCS. (PMID:23487782)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: IEA. (OMIM:108145)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/3. (PMID:23487782)