TaoMedAI/RareMedData huggingface dataset:
Gene: EXTL3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Trident hand (HP:0004060)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EYA1
Phenotype: Abnormal middle ear morphology (HP:0008609)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Microtia (HP:0008551)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Microtia (HP:0008551)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Microtia (HP:0008551)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Renal malrotation (HP:0004712)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Branchial cyst (HP:0009796)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Branchial cyst (HP:0009796)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Euthyroid goiter (HP:0009798)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Euthyroid goiter (HP:0009798)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Enlarged cochlear aqueduct (HP:0011388)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Aplasia/Hypoplasia of the cochlea (HP:0011395)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Microdontia (HP:0000691)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Short stature (HP:0004322)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Renal steatosis (HP:0000799)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormality of the middle ear ossicles (HP:0004452)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Abnormal lateral semicircular canal morphology (HP:0040106)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Lip pit (HP:0100267)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Branchial sinus (HP:0100272)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Narrow face (HP:0000275)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Narrow face (HP:0000275)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Long face (HP:0000276)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Long face (HP:0000276)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: High palate (HP:0000218)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: High palate (HP:0000218)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: High palate (HP:0000218)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Increased overbite (HP:0011094)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Cupped ear (HP:0000378)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Cupped ear (HP:0000378)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Cupped ear (HP:0000378)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Lop ear (HP:0000394)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Macrotia (HP:0000400)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Narrow nose (HP:0000460)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Long neck (HP:0000472)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EYA1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: EYA1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Gene: EYA1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Gene: EYA1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: EYA1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: EYA1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Gene: EZH2
Phenotype: Large hands (HP:0001176)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Large hands (HP:0001176)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EZH2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hypertonia (HP:0001276)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Seizure (HP:0001250)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WEAVER SYNDROME (OMIM:277590)
Gene: EZH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: EZH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EZH2
Phenotype: Dysarthria (HP:0001260)
Associated disease: WEAVER SYNDROME (OMIM:277590)