TaoMedAI/RareMedData huggingface dataset:
Gene: ELN
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Malar flattening (HP:0000272)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Obesity (HP:0001513)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hoarse voice (HP:0001609)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Sudden death (HP:0001699)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Narrow forehead (HP:0000341)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Long philtrum (HP:0000343)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Gene: ELN
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Triangular face (HP:0000325)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Strabismus (HP:0000486)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Small nail (HP:0001792)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Chronic constipation (HP:0012450)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hallux valgus (HP:0001822)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Food intolerance (HP:0012537)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: EML1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Seizure (HP:0001250)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Spasticity (HP:0001257)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EML1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: BAND HETEROTOPIA (OMIM:600348)
Gene: EMD
Phenotype: Myotonia (HP:0002486)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Waddling gait (HP:0002515)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Waddling gait (HP:0002515)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Joint stiffness (HP:0001387)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)