TaoMedAI/RareMedData huggingface dataset:
Gene: NSUN6
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Growth delay (HP:0001510)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: NSUN6
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Gene: AK9
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: AK9
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: RSPH9
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Short stature (HP:0004322)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Immotile sperm (HP:0012208)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Gene: RSPH9
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ARMC12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: ARMC12
Phenotype: Abnormal circulating luteinizing hormone concentration (HP:0030345)
Associated disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Gene: LEMD2
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY (OMIM:212500)
Gene: LEMD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY (OMIM:212500)
Gene: LEMD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Wormian bones (HP:0002645)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Large forehead (HP:0002003)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Intention tremor (HP:0002080)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Femur fracture (HP:0031846)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Short stature (HP:0004322)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Eruption failure (HP:0000706)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY (OMIM:212500)
Gene: LEMD2
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Growth delay (HP:0001510)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY (OMIM:212500)
Gene: LEMD2
Phenotype: Triangular face (HP:0000325)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Proptosis (HP:0000520)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: LEMD2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Gene: PHACTR1
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: PHACTR1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: PHACTR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: PHACTR1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: PHACTR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 (OMIM:618298)
Gene: PHACTR1
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: PHACTR1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: SYCP2L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)