Cystinuria |
|
Abnormality of amino acid metabolism, Hyperuricemia |
ORPHA:214 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of amino acid metabolism, Abnormal blood inorganic cation concentration, Increased to... |
ORPHA:309854 |
Tyrosinemia Type 2 |
|
Abnormality of amino acid metabolism, Tremor, Ataxia |
ORPHA:28378 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Abnormal protein N-linked glycosylation, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:616829 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Fructose And Galactose Intolerance |
|
Galactose intolerance, Fructose intolerance |
OMIM:229500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism, Ataxia |
ORPHA:220295 |
Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism, Hypergalactosemia |
ORPHA:570422 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Positive Romberg sign, Hypertriglyceridemia, Dysmetria, ... |
OMIM:277460 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
OMIM:616828 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormal metabolism, Hypercholesterolemia, Action tremor, Hyperuricemia |
ORPHA:77296 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ab... |
OMIM:617395 |
Galactose Epimerase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:79238 |
Aspartylglucosaminuria |
|
Abnormality of amino acid metabolism |
ORPHA:93 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormal metabolism, Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-ac... |
ORPHA:567983 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Decreased circulating IgA level... |
ORPHA:90362 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Exaggerated startle response |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Slc35A2-Cdg |
|
Decreased galactosylation of N-linked protein glycosylation, Abnormal glycosylation, Decreased si... |
ORPHA:356961 |
Chylomicron Retention Disease |
|
Abnormality of vitamin metabolism, Hypocholesterolemia, Impaired proprioception |
ORPHA:71 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response |
OMIM:618056 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Gait ataxia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Exaggerated startle response |
ORPHA:320406 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Impairment of galactose metabolism, Increased serum bile acid c... |
OMIM:227810 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Abnormality of vitamin metabolism, Hyperbilirubinemia |
ORPHA:79302 |
Stt3B-Cdg |
|
Abnormal glycosylation |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation |
OMIM:615597 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Exaggerated startle response |
OMIM:272750 |
Stt3A-Cdg |
|
Abnormal glycosylation |
ORPHA:370921 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Laryngeal dystonia, Dysmetria, Tremor, Exaggerated startle r... |
ORPHA:845 |
Secondary Short Bowel Syndrome |
|
Abnormality of vitamin metabolism, Abnormal blood ion concentration, Low plasma citrulline |
ORPHA:95427 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response |
OMIM:617864 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response, Ataxia |
ORPHA:438216 |
Developmental And Epileptic Encephalopathy 50 |
|
Hyperammonemia, Abnormal glycosylation |
OMIM:616457 |
Sandhoff Disease |
|
Impaired temperature sensation, Exaggerated startle response, Ataxia |
OMIM:268800 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Fructose intolerance, Bicarbonaturia |
OMIM:229600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Dystonia, Decreased circulating vitamin D concentration... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |