TaoMedAI/RareMedData huggingface dataset:
Gene: ODC1
Phenotype: Non-convulsive status epilepticus without coma (HP:0032671)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Cupped ear (HP:0000378)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: High forehead (HP:0000348)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Macrotia (HP:0000400)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Small nail (HP:0001792)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Small nail (HP:0001792)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Ptosis (HP:0000508)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: ODC1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Gene: ODC1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (ORPHA:544488)
Gene: OGDH
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Hypertonia (HP:0001276)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Motor delay (HP:0001270)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Ataxia (HP:0001251)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Falls (HP:0002527)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Death in childhood (HP:0003819)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Dystonia (HP:0001332)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Dysmetria (HP:0001310)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Rigidity (HP:0002063)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Congenital lactic acidosis (HP:0004902)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Short stature (HP:0004322)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Gene: OGDH
Phenotype: Abnormality of Krebs cycle metabolism (HP:0000816)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGDH
Phenotype: Abnormal urine alpha-ketoglutarate concentration (HP:0012401)
Associated disease: Alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria (ORPHA:31)
Gene: OGG1
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: OGG1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: OPA1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Motor delay (HP:0001270)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Areflexia (HP:0001284)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Seizure (HP:0001250)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Spasticity (HP:0001257)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Tremor (HP:0001337)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Dysmetria (HP:0001310)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Myalgia (HP:0003326)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Migraine (HP:0002076)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Migraine (HP:0002076)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Babinski sign (HP:0003487)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Insidious onset (HP:0003587)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Frequent falls (HP:0002359)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Progressive (HP:0003676)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Progressive (HP:0003676)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: BEHR SYNDROME (OMIM:210000)