Phenotypes associated with the disease congenital myopathy 4A, autosomal dominant (OMIM:255310):
- Congenital hip dislocation (HP:0001374). Evidence: IEA. (OMIM:255310)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. (OMIM:255310)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: IEA. (OMIM:255310)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:255310)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: TAS. (OMIM:255310)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: IEA. (OMIM:255310)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:255310)
- 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: IEA. (OMIM:255310)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: IEA. (OMIM:255310)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: IEA. (OMIM:255310)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: TAS. (OMIM:255310)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: IEA. (OMIM:255310)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: IEA. (OMIM:255310)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: IEA. (OMIM:255310)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:255310)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. (OMIM:255310)
- Bulbar palsy (HP:0001283): 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. Evidence: IEA. (OMIM:255310)
- Limb joint contracture (HP:0003121): A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. Evidence: TAS. (OMIM:255310)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. (OMIM:255310)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. (OMIM:255310)
- 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: IEA. (OMIM:255310)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. (OMIM:255310)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: IEA. (OMIM:255310)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:255310)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: IEA. (OMIM:255310)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: IEA. (OMIM:255310)
- 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: IEA. (OMIM:255310)
- Weak cry (HP:0001612). Evidence: IEA. (OMIM:255310)
- Type 1 fibers relatively smaller than type 2 fibers (HP:0003755): The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. Evidence: IEA. (OMIM:255310)