- 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:435934)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Psychomotor deterioration (HP:0002361): Loss of previously present mental and motor abilities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Abnormality of the coagulation cascade (HP:0003256): An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Generalized tonic seizure (HP:0010818): A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Decreased circulating ceruloplasmin concentration (HP:0010837): The concentration of ceruloplasmin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Decreased circulating copper concentration (HP:0011967): The concentration of copper cation in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
- Small pituitary gland (HP:0012506): An abnormally decreased size of the pituitary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:435934)
These phenotypes are associated with the disease COG2-CDG (ORPHA:435934).