Phenotypes associated with the disease fragile X syndrome (OMIM:300624, an entry in Online Mendelian Inheritance in Man):
- Large forehead (HP:0002003, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/13. (PMID:25875842)
- Moderate intellectual disability (HP:0002342, a Human Phenotype Ontology term): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: PCS. Frequency: 13/13. (PMID:25875842)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: TAS. (OMIM:300624)
- Coarse facial features (HP:0000280, a Human Phenotype Ontology term): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: IEA. (OMIM:300624)
- Self-biting (HP:0012169, a Human Phenotype Ontology term): Habitual biting of one's own body. Evidence: PCS. Frequency: 4/13. (PMID:25875842)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:29083768)
- Reduced eye contact (HP:0000817, a Human Phenotype Ontology term): A reduced frequency or duration of eye contact. Evidence: PCS. Frequency: 8/13. (PMID:25875842)
- Periventricular heterotopia (HP:0007165, a Human Phenotype Ontology term): A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. Evidence: TAS. (OMIM:300624)
- Autism (HP:0000717, a Human Phenotype Ontology term): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: IEA. (OMIM:300624)
- Typified by incomplete penetrance (HP:0003829, a Human Phenotype Ontology term): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:300624)
- Metacarpophalangeal joint hyperextensibility (HP:0006099, a Human Phenotype Ontology term): Increased mobility of one ore more metacarpophalangeal joint. Evidence: PCS. Frequency: 2/13. (PMID:25875842)
- Hyperactivity (HP:0000752, a Human Phenotype Ontology term): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 9/13. (PMID:25875842)
- X-linked dominant inheritance (HP:0001423, a Human Phenotype Ontology term): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: IEA. (OMIM:300624)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:300624)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: IEA. (OMIM:300624)
- Abnormal head movements (HP:0002457, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:300624)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:300624)
- Long face (HP:0000276, a Human Phenotype Ontology term): 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: PCS. Frequency: 5/13. (PMID:25875842)
- Folate-dependent fragile site at Xq28 (HP:0003564, a Human Phenotype Ontology term): The presence of a folate sensitive fragile site at chromosome Xq28. Evidence: IEA. (OMIM:300624)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: IEA. (OMIM:300624)
- Macroorchidism, postpubertal (HP:0002050, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:300624)
- Recurrent hand flapping (HP:0100023, a Human Phenotype Ontology term): A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically. Evidence: PCS. Frequency: 5/13. (PMID:25875842)
- Congenital macroorchidism (HP:0008640, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:300624)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): 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:300624)
- Macrotia (HP:0000400, a Human Phenotype Ontology term): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 6/13. (PMID:25875842)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: IEA. (OMIM:300624)
- Mandibular prognathia (HP:0000303, a Human Phenotype Ontology term): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 6/13. (PMID:25875842)