TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB3
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Startle-induced seizure (HP:0020214)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
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: TUBB3
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Seizure (HP:0001250)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Ataxia (HP:0001251)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Spasticity (HP:0001257)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Spasticity (HP:0001257)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Dysgyria (HP:0032398)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Dystonia (HP:0001332)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Lissencephaly (HP:0001339)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Pachygyria (HP:0001302)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Grasp reflex (HP:0030903)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Insomnia (HP:0100785)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Large basal ganglia (HP:0007048)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Facial palsy (HP:0010628)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Small hand (HP:0200055)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Agyria (HP:0031882)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Nystagmus (HP:0000639)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Amblyopia (HP:0000646)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Fusion of the caudate and putamen (HP:0034180)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Short attention span (HP:0000736)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Emotional lability (HP:0000712)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Superior rectus atrophy (HP:0012242)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: High palate (HP:0000218)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Hypoplastic anterior commissure (HP:0030303)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)