TaoMedAI/RareMedData huggingface dataset:
Gene: NKX2-5
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Growth delay (HP:0001510)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Dysphonia (HP:0001618)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Atrial septal defect-atrioventricular conduction defects syndrome (ORPHA:1479)
Gene: NKX2-5
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Heart murmur (HP:0030148)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Short neck (HP:0000470)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Abnormal left ventricular outflow tract morphology (HP:0011103)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: CTBP1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Split hand (HP:0001171)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Split hand (HP:0001171)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Microtia (HP:0008551)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Sporadic (HP:0003745)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Seizure (HP:0001250)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Hypoplastic pubic ramus (HP:0008830)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Short upper lip (HP:0000188)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Streak ovary (HP:0010464)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Tethered cord (HP:0002144)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Tethered cord (HP:0002144)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)