TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB2A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Absent speech (HP:0001344)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBB2A
Phenotype: Enlarged posterior fossa (HP:0005445)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Gene: TUBG1
Phenotype: Motor delay (HP:0001270)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Seizure (HP:0001250)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Ataxia (HP:0001251)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Postural instability (HP:0002172)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Dyslexia (HP:0010522)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Poor coordination (HP:0002370)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Memory impairment (HP:0002354)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Agyria (HP:0031882)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Short attention span (HP:0000736)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Autism (HP:0000717)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Broad forehead (HP:0000337)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: TUBG1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUBG1
Phenotype: Cataract (HP:0000518)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
Gene: TUFM
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Opisthotonus (HP:0002179)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Gene: TUFT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Woolly hair (HP:0002224)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Acantholysis (HP:0100792)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Fragile skin (HP:0001030)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TUFT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Gene: TULP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Hemeralopia (HP:0012047)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Eye poking (HP:0001483)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Dull foveal reflex (HP:0034362)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Retinal arteriolar constriction (HP:0008043)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Gene: TULP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Gene: TULP1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TULP1
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: TULP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TULP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)