TaoMedAI/RareMedData huggingface dataset:
Gene: RSPH4A
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Gene: RSPH4A
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH4A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: EYS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: EYS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Gene: EYS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EYS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZFP57
Phenotype: Seizure (HP:0001250)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Hypotonia (HP:0001252)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Macroglossia (HP:0000158)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Dehydration (HP:0001944)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Dehydration (HP:0001944)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: ZFP57
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ZFP57
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: TUBB8
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 2 (OMIM:616780)
Gene: TUBB8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OOCYTE MATURATION DEFECT 2 (OMIM:616780)
Gene: TUBB8
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB8
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 2 (OMIM:616780)
Gene: TUBB8
Phenotype: Female infertility (HP:0008222)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB8
Phenotype: Abnormal oocyte morphology (HP:0020155)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB8
Phenotype: Abnormal meiosis (HP:0031515)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB8
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: OOCYTE MATURATION DEFECT 2 (OMIM:616780)
Gene: TUBB8
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: TUBB2B
Phenotype: Dysgenesis of the basal ganglia (HP:0025102)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Startle-induced seizure (HP:0020214)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Motor delay (HP:0001270)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Hemiparesis (HP:0001269)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Seizure (HP:0001250)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Seizure (HP:0001250)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Dysgyria (HP:0032398)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Pachygyria (HP:0001302)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Pachygyria (HP:0001302)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)