TaoMedAI/RareMedData huggingface dataset:
Gene: SIX1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Gene: SIX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Gene: SIX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Gene: SIX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Gene: SIX1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Branchiootic syndrome (ORPHA:52429)
Gene: SIX3
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Aplasia of the nasal bone (HP:0010941)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Cyclopia (HP:0009914)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Sporadic (HP:0003745)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SCHIZENCEPHALY (OMIM:269160)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Spasticity (HP:0001257)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Inability to walk (HP:0002540)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Absent speech (HP:0001344)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Floppy infant (HP:0008947)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: SIX3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SIX3
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: SIX3
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: SIX3
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SIX3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: SIX3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)