TaoMedAI/RareMedData huggingface dataset:
Gene: SIM1
Phenotype: Poor suck (HP:0002033)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Decreased circulating vitamin B1 concentration (HP:0100503)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Poor coordination (HP:0002370)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Small hand (HP:0200055)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Short stature (HP:0004322)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Psychosis (HP:0000709)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Infertility (HP:0000789)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Retrognathia (HP:0000278)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Full cheeks (HP:0000293)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Xerostomia (HP:0000217)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Obesity (HP:0001513)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Obesity (HP:0001513)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Obesity (HP:0001513)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Weak cry (HP:0001612)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Increased resting energy expenditure (HP:0012339)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Broad forehead (HP:0000337)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Postural hypotension with compensatory tachycardia (HP:0005307)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Strabismus (HP:0000486)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Strabismus (HP:0000486)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Short foot (HP:0001773)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Premature pubarche (HP:0012411)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Abnormal ear morphology (HP:0031703)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Long foot (HP:0001833)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIX1
Phenotype: Abnormal middle ear morphology (HP:0008609)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Microtia (HP:0008551)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Microtia (HP:0008551)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Gene: SIX1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Gene: SIX1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Commissural lip pit (HP:0002710)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Renal malrotation (HP:0004712)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Facial palsy (HP:0010628)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Branchial fistula (HP:0009795)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Branchial cyst (HP:0009796)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Branchial cyst (HP:0009796)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Branchial cyst (HP:0009796)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Euthyroid goiter (HP:0009798)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Euthyroid goiter (HP:0009798)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Enlarged cochlear aqueduct (HP:0011388)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Aplasia/Hypoplasia of the cochlea (HP:0011395)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Microdontia (HP:0000691)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Renal steatosis (HP:0000799)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Abnormality of the middle ear ossicles (HP:0004452)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Abnormal lateral semicircular canal morphology (HP:0040106)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Gene: SIX1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Lip pit (HP:0100267)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Branchial sinus (HP:0100272)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Narrow face (HP:0000275)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Long face (HP:0000276)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: High palate (HP:0000218)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Increased overbite (HP:0011094)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Cupped ear (HP:0000378)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Lop ear (HP:0000394)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)