Cystinuria |
|
Hyperuricemia, Abnormality of amino acid metabolism |
ORPHA:214 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Decreased circulating vit... |
ORPHA:309854 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia, Abnormality of amino acid metabolism |
ORPHA:28378 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Abnormality of amino acid metabolism |
ORPHA:220295 |
Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism, Hypergalactosemia |
ORPHA:570422 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Decreased circulating vitamin E concentration, Impaired propriocept... |
OMIM:277460 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation, Decreased circulating ceruloplasmin concentration, Elevated circulating c... |
OMIM:616828 |
Classic Homocystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Abnormal metabolism, Action tremor |
ORPHA:77296 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Abnormal glycosylation, Decreased circulating ceruloplasmin concentration, Decreased circulating ... |
OMIM:617395 |
Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
Galactose Epimerase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:79238 |
Aspartylglucosaminuria |
|
Abnormality of amino acid metabolism |
ORPHA:93 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal metabolism, Abnormal circulating fatty-ac... |
ORPHA:567983 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Impaired proprioception, Abnormality of vitamin metabolism, Hypocholesterol... |
ORPHA:71 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating total IgM, Abnormality of vitamin met... |
ORPHA:90362 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Slc35A2-Cdg |
|
Abnormal glycosylation, Decreased galactosylation of N-linked protein glycosylation, Increased ci... |
ORPHA:356961 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Stt3B-Cdg |
|
Abnormal glycosylation |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation |
OMIM:615597 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Impairment of galactose metabolism, Hypophosphatemia, Hypokalemia, Hypergalactosemi... |
OMIM:227810 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Dystonia |
OMIM:272750 |
Stt3A-Cdg |
|
Abnormal glycosylation |
ORPHA:370921 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Abnormality of vitamin metabolism, Hyperbilirubinemia |
ORPHA:79302 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Dystonia, L... |
ORPHA:845 |
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 |
|
Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response |
OMIM:617864 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation |
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 |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Developmental And Epileptic Encephalopathy 50 |
|
Abnormal glycosylation, Hyperammonemia |
OMIM:616457 |
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 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
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 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fructose intolerance |
OMIM:229600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Low levels of vitamin D, Decreased serum iron, Dystonia |
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 |