TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB3
Phenotype: Agenesis of the anterior commissure (HP:0030302)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Strabismus (HP:0000486)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Strabismus (HP:0000486)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
Gene: TUBB3
Phenotype: Strabismus (HP:0000486)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Torticollis (HP:0000473)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Short foot (HP:0001773)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Flat occiput (HP:0005469)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormality of the internal capsule (HP:0012502)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Ptosis (HP:0000508)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Exotropia (HP:0000577)
Associated disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT (OMIM:600638)
Gene: TUBB3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Visual loss (HP:0000572)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Esotropia (HP:0000565)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Esotropia (HP:0000565)
Associated disease: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
Gene: TUBB3
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB3
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB4A
Phenotype: Poor speech (HP:0002465)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Sporadic (HP:0003745)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Movement abnormality of the tongue (HP:0000182)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Open mouth (HP:0000194)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Rigidity (HP:0002063)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Hemidystonia (HP:0032005)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Dementia (HP:0000726)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Narrow face (HP:0000275)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Slender build (HP:0001533)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Torticollis (HP:0000473)
Associated disease: Primary dystonia, DYT4 type; Hereditary whispering dysphonia; DYT4 (ORPHA:98805)
Gene: TUBB4A
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Gene: TUBB4A
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4A
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Gene: TUBB4B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: High hypermetropia (HP:0008499)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Gene: TUBB4B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TUBB4B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB4B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SYCP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Gene: SYCP2
Phenotype: Cryptozoospermia (HP:0030974)
Associated disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Gene: SYCP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Gene: SYCP2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Gene: SYCP2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Gene: DLC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DLC1
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: NDRG1
Phenotype: Split hand (HP:0001171)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Motor delay (HP:0001270)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)