Phenotypes associated with the disease facioscapulohumeral muscular dystrophy 1 (OMIM:158900):
- 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: TAS. (OMIM:158900)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:158900)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:158900)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: IEA. (OMIM:158900)
- Inability to puff cheeks (HP:6001102): Reduced ability to inflate the cheeks by blowing air into them while keeping the lips closed. Evidence: PCS. (PMID:33113021)
- Serous retinal detachment (HP:0012231): A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow. Evidence: TAS. (OMIM:158900)
- Tongue atrophy (HP:0012473): Wasting of the tongue. Evidence: TAS. (OMIM:158900)
- Abdominal wall muscle weakness (HP:0009023): Decreased strength of the abdominal musculature. Evidence: IEA. (OMIM:158900)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. (OMIM:158900)
- Scapulohumeral muscular dystrophy (HP:0008970). Evidence: IEA. (OMIM:158900)
- Retinal telangiectasia (HP:0007763): Localized, irregular dilatation of small tortuous intraretinal blood vessels. Evidence: TAS. (OMIM:158900)
- Shoulder girdle muscle weakness (HP:0003547): The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. Evidence: TAS. (OMIM:158900)
- Shoulder girdle muscle atrophy (HP:0003724): Amyotrophy affecting the muscles of the shoulder girdle. Evidence: TAS. (OMIM:158900)
- 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: IEA. (OMIM:158900)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. (OMIM:158900)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:158900)
- Inability to protrude lips (HP:6001010): Lack of ability to purse or pucker the lips. Evidence: PCS. (PMID:30804066)
- Beevor's sign (HP:0030664): Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. Evidence: TAS. (OMIM:158900)
- Transverse smile (HP:6000864): Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth. Evidence: PCS. (PMID:27922500)
- 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: IEA. (OMIM:158900)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. (OMIM:158900)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: IEA. (OMIM:158900)
- 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:158900)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:158900)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: IEA. (OMIM:158900)