TaoMedAI/RareMedData huggingface dataset:
Gene: SLC2A10
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Fatigue (HP:0012378)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Macrotia (HP:0000400)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Strabismus (HP:0000486)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Keratoconus (HP:0000563)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Myopia (HP:0000545)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC25A32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (OMIM:616839)
Gene: SLC25A32
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (OMIM:616839)
Gene: SLC25A32
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE (OMIM:616839)
Gene: CFHR5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Glomerular subendothelial electron-dense deposits (HP:0004746)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Thickening of glomerular capillary wall (HP:0025005)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Progressive (HP:0003676)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Mesangial matrix expansion (HP:0033493)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Glomerular C3 deposition (HP:0012576)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: CFHR5
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: C3 GLOMERULOPATHY 3 (OMIM:614809)
Gene: FBXO38
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Variable expressivity (HP:0003828)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Triceps weakness (HP:0031108)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Muscle spasm (HP:0003394)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Difficulty running (HP:0009046)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: FBXO38
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Gene: YIPF5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: YIPF5
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 (OMIM:619278)
Gene: LMAN2L
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: LMAN2L
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: LMAN2L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: LMAN2L
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: LMAN2L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Intention tremor (HP:0002080)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: LMAN2L
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Gene: LMAN2L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Gene: CLPB
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Zonular cataract (HP:0010920)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Infection associated neutropenia (HP:0410256)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Myeloid maturation arrest (HP:0410253)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Gene: CLPB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Hypertonia (HP:0001276)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: CLPB
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Gene: CLPB
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)