Phenotypes associated with the disease Cystathioninuria (ORPHA:212):
- Cystathioninuria (HP:0003153): An elevated urinary concentration of cystathionine. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:212)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:212)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:212)
- Cystathioninemia (HP:0003286): An increased concentration of cystathionine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:212)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:212)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:212)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:212)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:212)