TaoMedAI/RareMedData huggingface dataset:
Gene: SCO2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Persistent fever (HP:0033399)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Frequent falls (HP:0002359)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Memory impairment (HP:0002354)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal circulating copper concentration (HP:0010836)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Apathy (HP:0000741)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Stridor (HP:0010307)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Heart murmur (HP:0030148)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Bradycardia (HP:0001662)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Strabismus (HP:0000486)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Pes planus (HP:0001763)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Visual impairment (HP:0000505)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Exotropia (HP:0000577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Exotropia (HP:0000577)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: AKT3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Seizure (HP:0001250)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Seizure (HP:0001250)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Pachygyria (HP:0001302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Gliosis (HP:0002171)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)