TaoMedAI/RareMedData huggingface dataset:
Gene: CHRNA4
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA4
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNA7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Synophrys (HP:0000664)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Abnormality of the palpebral fissures (HP:0008050)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Strabismus (HP:0000486)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: CHRNA7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNA7
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 15q13.3; Del(15)(q13.3); 15q13.3 microdeletion syndrome (ORPHA:199318)
Gene: CHRNB1
Phenotype: Poor head control (HP:0002421)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Poor suck (HP:0002033)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Narrow face (HP:0000275)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Long face (HP:0000276)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Gene: CHRNB1
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Gene: CHRNB1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB1
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNB2
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (OMIM:605375)
Gene: CHRNB2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (OMIM:605375)
Gene: CHRNB2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRNB2
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CHRND
Phenotype: Poor head control (HP:0002421)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
Gene: CHRND
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616323)
Gene: CHRND
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRND
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616323)
Gene: CHRND
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
Gene: CHRND
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
Gene: CHRND
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616323)
Gene: CHRND
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
Gene: CHRND
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRND
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRND
Phenotype: Joint dislocation (HP:0001373)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRND
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
Gene: CHRND
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)