Phenotypes associated with the disease hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (OMIM:610293):
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/3. (PMID:16767100)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: PCS. Frequency: 2/3. (PMID:16767100)
- Atonic seizure (HP:0010819): Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Evidence: PCS. Frequency: 1/3. (PMID:16767100)
- Hepatic vein thrombosis (HP:0030243): An obstruction in the veins of the liver caused by a blood clot (thrombosis). Evidence: PCS. (PMID:16767100)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/3. (PMID:16767100)
- Portal vein thrombosis (HP:0030242): Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. Evidence: PCS. Frequency: 2/3. (PMID:16767100)
- Abnormal bone marrow cell morphology (HP:0005561): An anomaly of the form or number of cells in the bone marrow. Evidence: PCS. Frequency: 0/3. (PMID:16767100)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/3. (PMID:16767100)
- Reduced granulocyte CD59 level (HP:0031555): Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. Evidence: TAS. (PMID:17442906)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 2/3. (PMID:16767100)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:16767100)
- 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:16767100)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: PCS. (PMID:16767100)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/3. (PMID:16767100)