TaoMedAI/RareMedData huggingface dataset:
Gene: PIGA
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Thromboembolism (HP:0001907)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Anemia (HP:0001903)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Anodontia (HP:0000674)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Microdontia (HP:0000691)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Microdontia (HP:0000691)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Short stature (HP:0004322)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Diffuse leukoencephalopathy (HP:0006994)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Glycosuria (HP:0003076)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Impotence (HP:0000802)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Autism (HP:0000717)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Fetal onset (HP:0011461)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Abnormal circulating iron concentration (HP:0040130)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Hypertension (HP:0000822)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hip contracture (HP:0003273)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Pallor (HP:0000980)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Jaundice (HP:0000952)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Edema (HP:0000969)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal hepatic iron concentration (HP:0040134)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Short finger (HP:0009381)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Increased head circumference (HP:0040194)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Malar flattening (HP:0000272)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Prominent occiput (HP:0000269)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Large fontanelles (HP:0000239)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Microcephaly (HP:0000252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Overgrowth (HP:0001548)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Overgrowth (HP:0001548)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Death in infancy (HP:0001522)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Ascites (HP:0001541)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Triangular mouth (HP:0000207)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Aspiration (HP:0002835)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Broad forehead (HP:0000337)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Round face (HP:0000311)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Breech presentation (HP:0001623)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Focal seizure with eyelid myoclonia (HP:0011168)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Bilateral fetal pyelectasis (HP:0011129)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Small nail (HP:0001792)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: PIGA
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Mesenteric venous thrombosis (HP:0030248)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Short neck (HP:0000470)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Flat occiput (HP:0005469)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: PIGA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Hemosiderinuria (HP:0012543)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Gene: PIGA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGA
Phenotype: Pancytopenia (HP:0001876)
Associated disease: PNH; Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease (ORPHA:447)
Gene: PIGA
Phenotype: Myopia (HP:0000545)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Gene: PIGC
Phenotype: Poor speech (HP:0002465)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Gene: PIGC
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)