Phenotype: Late young adult onset (HP:0025710)
Associated genes and diseases:
gene_symbol: H6PD
disease_id: OMIM:604931
disease_name: CORTISONE REDUCTASE DEFICIENCY 1
gene_symbol: PSEN1
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: MAPT
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: SYNJ1
disease_id: OMIM:615530
disease_name: PARKINSON DISEASE 20, EARLY-ONSET
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: MME
disease_id: OMIM:617017
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: KCNJ11
disease_id: OMIM:616329
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: HSPB1
disease_id: OMIM:606595
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: CACNB4
disease_id: OMIM:607682
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: CAV3
disease_id: OMIM:611818
disease_name: LONG QT SYNDROME 9
gene_symbol: TMEM126B
disease_id: OMIM:618250
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
gene_symbol: PRNP
disease_id: OMIM:606688
disease_name: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: VAPB
disease_id: OMIM:182980
disease_name: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
gene_symbol: SCN3B
disease_id: OMIM:613120
disease_name: BRUGADA SYNDROME 7
gene_symbol: EPCAM
disease_id: OMIM:613244
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
gene_symbol: CFH
disease_id: OMIM:126700
disease_name: BASAL LAMINAR DRUSEN
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: POLG2
disease_id: OMIM:610131
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4
gene_symbol: CHCHD10
disease_id: OMIM:615048
disease_name: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
gene_symbol: CHRNA2
disease_id: OMIM:610353
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
gene_symbol: PRPH2
disease_id: OMIM:608161
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 3
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: PTEN
disease_id: OMIM:613028
disease_name: GLIOMA SUSCEPTIBILITY 2
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28