TaoMedAI/RareMedData huggingface dataset:
Gene: SH2B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Seizure (HP:0001250)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Seizure (HP:0001250)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: No social interaction (HP:0008763)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Platybasia (HP:0002691)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Dystonia (HP:0001332)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Migraine (HP:0002076)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Moderate receptive language delay (HP:0011351)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Moderate receptive language delay (HP:0011351)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Short stature (HP:0004322)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Autism (HP:0000717)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Obesity (HP:0001513)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Obesity (HP:0001513)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Obesity (HP:0001513)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Gene: SH2B1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Oval face (HP:0000300)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: PARS2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Open mouth (HP:0000194)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)