Phenotypes associated with the disease Absence deformity of leg-cataract syndrome (ORPHA:2310):
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2310)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)
- Lower limb undergrowth (HP:0009816): Leg shortening because of underdevelopment of one or more bones of the lower extremity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2310)