TaoMedAI/RareMedData huggingface dataset:
Gene: GLRX5
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Hypochromia (HP:0032231)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Hypertonia (HP:0001276)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Ataxia (HP:0001251)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Cirrhosis (HP:0001394)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Myoclonus (HP:0001336)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Reduced tissue glycine cleavage enzyme activity (HP:6000829)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Loss of ability to walk in early childhood (HP:0008945)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Babinski sign (HP:0003487)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Nonketotic hyperglycinemia (HP:0008288)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Developmental regression (HP:0002376)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Irritability (HP:0000737)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Short attention span (HP:0000736)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: GLRX5
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY (OMIM:616860)
Gene: GLRX5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Childhood-onset spasticity with variant non-ketotic hyperglycinemia; Childhood-onset spasticity with hyperglycinemia; Spasticity-ataxia-gait anomalies syndrome (ORPHA:401866)
Gene: GLRX5
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA (OMIM:616859)
Gene: PIGP
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Clonus (HP:0002169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Gene: PIGP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGP
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)