Weight loss

syndrome OMIM 615846

Aicardi-Goutieres Syndrome 7

freq: 1/5 ev: PCS

syndrome OMIM 137440

Amyloidosis, Cerebral, With Spongiform Encephalopathy

ev: TAS

syndrome OMIM 301310

Anemia, Sideroblastic, And Spinocerebellar Ataxia

freq: 2/2 ev: PCS

syndrome OMIM 233450

Anti-Glomerular Basement Membrane Disease

freq: 4/29 ev: PCS

syndrome OMIM 614162

Candidiasis, Familial, 7

freq: 2/5 ev: PCS

syndrome OMIM 137440

Cerebral Amyloid Angiopathy, Prnp-Related

ev: TAS

syndrome OMIM 613673

Congenital Dyserythropoietic Anemia Type Iv

freq: 1/1 ev: PCS

syndrome OMIM 266600

Crohn Disease

ev: TAS

syndrome OMIM 219800

Cystinosis

freq: 1/1 ev: PCS

syndrome OMIM 219800

Cystinosis, Infantile Nephropathic

freq: 1/1 ev: PCS

syndrome OMIM 600072

Fatal Familial Insomnia

ev: IEA

syndrome OMIM 137440

Gerstmann-Straussler-Scheinker Disease

ev: TAS

syndrome OMIM 608710

Granulomatosis With Polyangiitis

ev: PCS

syndrome OMIM 275000

Graves Disease

ev: IEA

phenotype OMIM 275000

Graves Disease, Susceptibility To, 1

ev: IEA

syndrome OMIM 606438

Huntington Disease-Like 2

ev: IEA

syndrome OMIM 143880

Hypercalcemia, Idiopathic, of Infancy

ev: TAS

syndrome OMIM 143880

Hypercalcemia, Infantile, 1

ev: TAS

syndrome OMIM 209950

Immunodeficiency 27A

ev: PCS

syndrome OMIM 603041

Mitochondrial Dna Depletion Syndrome 1

freq: 20/20 ev: PCS

syndrome OMIM 613662

Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)

ev: TAS

syndrome OMIM 612075

Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)

ev: TAS

syndrome OMIM 612075

Mitochondrial Dna Depletion Syndrome 8B (Mngie Type)

ev: TAS

syndrome OMIM 603041

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

freq: 20/20 ev: PCS

syndrome OMIM 219800

Nephropathic Cystinosis

freq: 1/1 ev: PCS

phenotype OMIM 256700

Neuroblastoma, Susceptibility To

ev: IEA

syndrome OMIM 164310

Oculopharyngodistal Myopathy

ev: IEA

syndrome OMIM 605543

Parkinson Disease 4, Autosomal Dominant Lewy Body (Disorder)

ev: TAS

syndrome OMIM 168605

Perry Syndrome

ev: TAS

syndrome OMIM 180300

Rheumatoid Arthritis

ev: PCS

syndrome OMIM 607459

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

freq: 2/7 ev: PCS

disease OMIM 188580

Thyrotoxic Periodic Paralysis, Susceptibility To, 1

ev: IEA

disease OMIM 613239

Thyrotoxic Periodic Paralysis, Susceptibility To, 2

freq: 8/8 ev: PCS

syndrome OMIM 275000

Thyrotoxicosis

ev: IEA

syndrome OMIM 266600

Ulcerative Colitis

ev: TAS

syndrome OMIM 617321

Yao Syndrome

freq: 35/76 ev: PCS