- Hiatus hernia (HP:0002036): The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. Evidence: TAS. (OMIM:606408)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. (OMIM:606408)
- Muscle fiber splitting (HP:0003555): Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:606408)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. Frequency: 0/8. (PMID:11642233)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: IEA. (OMIM:606408)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 8/8. (PMID:11642233)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: TAS. (OMIM:606408)
- Striae distensae (HP:0001065): Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. Evidence: PCS. Frequency: 1/8. (PMID:11642233)
- Atrophic scars (HP:0001075): Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. Evidence: PCS. Frequency: 0/8. (PMID:11642233)
- Quadricuspid aortic valve (HP:0031655): The presence of an aortic valve with four instead of the normal three cusps (flaps). Evidence: IEA. (OMIM:606408)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:606408)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: PCS. Frequency: 12/18. (OMIM:606408;PMID:11642233)
- Increased connective tissue (HP:0009025): The presence of an abnormally increased amount of connective tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:606408)
- 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:11642233)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 8/8. (PMID:11642233)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. (OMIM:606408)
- Soft skin (HP:0000977): Subjective impression of increased softness upon palpation of the skin. Evidence: PCS. Frequency: 7/8. (PMID:11642233)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:606408)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:606408)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: PCS. Frequency: 8/8. (PMID:11642233)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. (OMIM:606408)
These phenotypes are associated with the disease Ehlers-Danlos syndrome due to tenascin-X deficiency (OMIM:606408).