TaoMedAI/RareMedData huggingface dataset:
Gene: SYNJ1
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: SYNJ1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
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: SYNJ1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Dystonia (HP:0001332)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
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: SYNJ1
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
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: SYNJ1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
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: SYNJ1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Stooped posture (HP:0025403)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Staring gaze (HP:0025401)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
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: SYNJ1
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
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: SYNJ1
Phenotype: Rigidity (HP:0002063)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
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: SYNJ1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
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: SYNJ1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Postural instability (HP:0002172)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
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: SYNJ1
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
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: SYNJ1
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: SYNJ1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
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: SYNJ1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
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: SYNJ1
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: SYNJ1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
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: SYNJ1
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Akinesia (HP:0002304)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Fatigue (HP:0012378)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Fatigue (HP:0012378)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Weak voice (HP:0001621)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ST3GAL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Absent speech (HP:0001344)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Myoclonus (HP:0001336)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Vomiting (HP:0002013)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Status epilepticus (HP:0002133)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Infantile onset (HP:0003593)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Developmental regression (HP:0002376)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Developmental stagnation at onset of seizures (HP:0006834)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Irritability (HP:0000737)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Microcephaly (HP:0000252)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: ST3GAL5
Phenotype: Visual loss (HP:0000572)
Associated disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Gene: SQSTM1
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: SQSTM1
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)