TaoMedAI/RareMedData huggingface dataset:
Gene: AGRN
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Narrow chest (HP:0000774)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Gene: AGRN
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AGRN
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Gene: AGRN
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: AGRN
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: NHLRC1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Confusion (HP:0001289)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Spasticity (HP:0001257)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Erratic myoclonus (HP:0025357)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Severe photosensitivity (HP:0007537)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Headache (HP:0002315)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Depression (HP:0000716)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Dementia (HP:0000726)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Dementia (HP:0000726)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Lafora bodies (HP:0100318)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Lafora bodies (HP:0100318)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Vegetative state (HP:0031358)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: NHLRC1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Gene: NHLRC1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Progressive myoclonus epilepsy type 2; PME type 2; Progressive myoclonic epilepsy type 2; EPM2; Lafora disease (ORPHA:501)
Gene: CEP85L
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Spasticity (HP:0001257)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Posterior predominant subcortical band heterotopia (HP:0032411)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)
Gene: CEP85L
Phenotype: Pachygyria (HP:0001302)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Dysphagia (HP:0002015)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: CEP85L
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: LISSENCEPHALY 10 (OMIM:618873)