Phenotypes associated with the disease nemaline myopathy 8 (OMIM:615348):
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 23/24. (PMID:23746549)
- 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: PCS. Frequency: 23/23. (PMID:23746549)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 14/29. Onset: Antenatal onset (HP:0030674). (PMID:23746549)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. Frequency: 24/27. (PMID:23746549)
- Gastrostomy tube feeding in infancy (HP:0011471): Feeding problem necessitating gastrostomy tube feeding. Evidence: PCS. Frequency: 13/24. Onset: Infantile onset (HP:0003593). (PMID:23746549)
- 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: PCS. (PMID:23746549)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. (PMID:23746549)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 28/29. (PMID:23746549)
- Fetal akinesia sequence (HP:0001989): Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). Evidence: PCS. (PMID:23746549)
- Myofibrillar myopathy (HP:0003715): Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. Evidence: PCS. (PMID:23746549)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 29/29. (PMID:23746549)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. (PMID:23746549)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: PCS. Frequency: 4/23. (PMID:23746549)
- Nemaline bodies (HP:0003798): Nemaline rods are abnormal bodies 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. Evidence: PCS. (PMID:23746549)