TaoMedAI/RareMedData huggingface dataset:
Gene: VPS35L
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Short neck (HP:0000470)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Microphthalmia (HP:0000568)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RARS2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Poor head control (HP:0002421)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Lethargy (HP:0001254)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Death in childhood (HP:0003819)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Narrow palate (HP:0000189)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Poor suck (HP:0002033)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Apnea (HP:0002104)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Progressive (HP:0003676)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: RARS2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 (OMIM:611523)
Gene: DAZ3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ3
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ3
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ3
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ3
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ2
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: TBX20
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Gene: TBX20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Gene: TBX20
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Gene: TBX20
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Gene: TBX20
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TBX20
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TBX20
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX20
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: HYMAI
Phenotype: Abdominal wall defect (HP:0010866)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Seizure (HP:0001250)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Hypotonia (HP:0001252)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: HYMAI
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Macroglossia (HP:0000158)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Macroglossia (HP:0000158)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: HYMAI
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Dehydration (HP:0001944)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Dehydration (HP:0001944)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: HYMAI
Phenotype: Dehydration (HP:0001944)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: HYMAI
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: HYMAI
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)