| Saccharopinuria |
|
Hypercystinemia, Short stature, Cystinuria, Hyperammonemia, Tremor, Abnormality of circulating en... |
ORPHA:3124 |
| Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Generalized hypotonia, Hypotoni... |
OMIM:230350 |
| Saccharopinuria |
|
Short stature, Saccharopinuria, Citrullinuria, Spastic diplegia, Hyperlysinuria, Histidinuria, El... |
OMIM:268700 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Hypotonia, Aminoaciduria, Jaundice |
ORPHA:79238 |
| Gracile Syndrome |
|
Increased serum iron, Intrauterine growth retardation, Increased circulating ferritin concentrati... |
OMIM:603358 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypospadias, Hepatomegaly, Short stature, Failure to thrive, Hyperammonemia, Ataxia, Generalized ... |
OMIM:604273 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hyperammonemia, Spasticity, Abnormal circulating leucine concentrat... |
ORPHA:6 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Generalized hypotonia, Hypotonia,... |
OMIM:612075 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, Hyperglycinuria, Generalized ... |
OMIM:239500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Renal tubular dysfunction, Neutropenia, Growth delay, Choreoathetosis, Ch... |
ORPHA:289916 |
| Hsd10 Disease |
|
Rigidity, Choreoathetosis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Ataxia, Postn... |
ORPHA:391417 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, 3-Methylglutaric aciduria, Myoclonus, Anemia, Glutaric aciduria, Hyperammonemia, Hy... |
OMIM:246450 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Hyperammonemia, Hypotonia, Aminoaciduria, Episodic ammonia intoxication |
ORPHA:147 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly, Hypotonia, Aminoaciduria |
ORPHA:417 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... |
OMIM:160120 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
| Argininemia |
|
Hyperammonemia, Hemiplegia/hemiparesis, Diaminoaciduria, Progressive spastic quadriplegia |
ORPHA:90 |
| Developmental And Epileptic Encephalopathy 82 |
|
Short stature, Spastic tetraplegia, Hyperammonemia, Decreased body weight, Spastic paraparesis, N... |
OMIM:618721 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Death in infancy, Opisthotonus, Intrauterine growth retardation, Hyperammonemia, Sp... |
OMIM:610678 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Failure to thrive, Anemia, Pancreatitis, Sp... |
ORPHA:79312 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria, Premature ovarian insufficiency, Severe short stature |
ORPHA:2278 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hyperphenylalaninemia, Tremor, Hypertonia, Elevated urinary 7-biopterin level, Transient hyperphe... |
OMIM:264070 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Growth delay, Myoclonus, Anemia, Generalized hypotonia, Hypotonia, Thrombocytop... |
OMIM:614946 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Anemia, Hyperammonemia, Hypotonia, Renal insufficiency |
ORPHA:28 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:213000 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentr... |
ORPHA:2394 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Hepatomegaly, Death in infancy, Intrauterine growth retardation, Growth delay, Hyper... |
ORPHA:1194 |
| Stimmler Syndrome |
|
Ataxia, Aminoaciduria, Intrauterine growth retardation, Short stature |
ORPHA:3199 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hyperammonemia, Spastic tetraparesis, Death in childhood, Hemiballismus, Low plasma citru... |
OMIM:618567 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Dystonia, Choreoathetosis, Elevated circulating creatine kinase concentration, Hyperammonemia, At... |
OMIM:618416 |
| Glycine Encephalopathy |
|
Death in infancy, Myoclonus, Hyperglycinemia, Hyperglycinuria, Generalized hypotonia, Hypotonia |
OMIM:605899 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Hypotonia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to ... |
OMIM:251100 |
| Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria, Growth delay |
OMIM:273770 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss, Hyperammonemia, Ataxia, Hypotonia, Thrombocytopenia, Organic aciduria |
ORPHA:79242 |
| D-Glyceric Aciduria |
|
Opisthotonus, Nonketotic hyperglycinemia, Growth delay, Failure to thrive, Myoclonus, Spastic tet... |
OMIM:220120 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Leukopenia, Methylmalonic aci... |
OMIM:251000 |
| Valinemia |
|
Failure to thrive, Hypervalinemia, Hyperkinetic movements, Valinuria |
OMIM:277100 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Death in infancy, Lacticaciduria, Elevated circulating creatine kinase concentra... |
OMIM:619386 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Dystonia, Failure to thrive, Abnormality of extrapyramidal motor function, Hyperammonemia, Spasti... |
OMIM:614739 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Clonus, Poor coordination, Failure to thrive, Acute hepatitis, Hyperammonemia, Spas... |
OMIM:238970 |
| Hartnup Disorder |
|
Hypertonia, Neutral hyperaminoaciduria, Short stature, Episodic ataxia |
OMIM:234500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Pancreatitis, Paraparesis, ... |
ORPHA:27 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Cardiomegaly, Dicarbo... |
ORPHA:42 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Generalized hypotonia, Intrauterine growth retardation, Spasticity, Hyperammonemia |
OMIM:618253 |
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239510 |
| Propionic Acidemia |
|
Hepatomegaly, Dystonia, Neutropenia, Limb hypertonia, Short stature, Failure to thrive, Anemia, P... |
OMIM:606054 |
| Diaminopentanuria |
|
Hyperlysinuria, Ataxia, Cystinuria, Spasticity |
OMIM:222350 |
| Galactosemia I |
|
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Failure to thrive, Increased level of galactitol ... |
OMIM:230400 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... |
OMIM:308990 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Athetosis, Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Failure to thrive, Chor... |
OMIM:309541 |
| Dibasic Amino Aciduria I |
|
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
| Citrullinemia Type I |
|
Failure to thrive, Torticollis, Hyperammonemia, Ataxia, Slurred speech, Ankle clonus, Spasticity,... |
ORPHA:247525 |
| Lysine Malabsorption Syndrome |
|
Hyperlysinuria, Renal tubular lysine transport defect, Growth delay |
OMIM:247950 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Dysmetria, Myoclonus, Ataxia, Generalized hypotonia, Hypotonia, Aminoaciduria |
OMIM:250620 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Short stature, Tremor |
OMIM:312910 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Failure to thrive, Paraplegia, Hyperglutaminemia, Stereotypy, Hyperammonemia, Ataxi... |
ORPHA:927 |
| Hyperlysinemia |
|
Clumsiness, Opisthotonus, Hypoornithinemia, Poor motor coordination, Short stature, Failure to th... |
ORPHA:2203 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Inten... |
OMIM:614052 |
| Hyper-Beta-Alaninemia |
|
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Aminoaciduria, Splenomegaly |
ORPHA:664 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Hepatocellular necrosis, Elevated circulating creatine kinase con... |
OMIM:201475 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Intention tremor, Spastic tetraparesis, Ataxia, Hemolytic anemia, Increased level of... |
OMIM:266130 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Cardiomegaly, Hyperalaninemia, Hyperammonemia, Truncal ataxia, G... |
OMIM:619051 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Cardiomegaly, Hyperammonemia... |
OMIM:212140 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Opisthotonus, Failure to thrive, Acute hepatic steatosis, Acute hyperammonemia, Generalized hypot... |
OMIM:210200 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Argininemia |
|
Hepatomegaly, Oroticaciduria, Portal fibrosis, Frequent falls, Hyperargininemia, Spastic gait, Mi... |
OMIM:207800 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy |
ORPHA:419 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Clonus, Death in infancy, Intrauterine growth retardation, Small for gestational... |
OMIM:619055 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Hypotonia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to ... |
OMIM:251110 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Cardiom... |
OMIM:255120 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Lacticaciduria, Poor eye contact, Hyperammonemia, Abnormal pyramidal sign, Recurre... |
ORPHA:3008 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Poor coordination, Choreoathetosis, Abnormal concentration of acylcarnitine in the urin... |
ORPHA:391428 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hyperammonemia |
ORPHA:35 |
| Glutamate Formiminotransferase Deficiency |
|
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Aminoaciduria, Positi... |
OMIM:229100 |
| Dent Disease 2 |
|
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... |
OMIM:300555 |
| Sialidosis Type 1 |
|
Short stature, Myoclonus, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Tremor,... |
ORPHA:812 |
| Multiple Carboxylase Deficiency |
|
Organic aciduria, Hyperammonemia, Ataxia, Hypotonia, Spastic paraparesis |
ORPHA:148 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Short stature, H... |
OMIM:618120 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hyperhomocystinemia, Hypomethioninemia, Poor coordination, Failure to thrive, Homocystinuria, Meg... |
OMIM:250940 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Hepatic necrosis, Abnormal cir... |
ORPHA:71212 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Short stature, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Ataxia, Aminoa... |
ORPHA:23 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Hypotonia, Alpha-aminoadipic aciduria |
OMIM:204750 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid con... |
OMIM:615160 |
| Cystathioninuria |
|
Tremor, Nephrolithiasis, Cystathioninuria, Cystathioninemia |
ORPHA:212 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| 2P21 Microdeletion Syndrome |
|
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Hypotonia |
ORPHA:163693 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Hyperhomocystinemia, Homocystinuria, Incoordination |
OMIM:236250 |
| Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Hyperammonemia, Hypoglutaminemia, Generalized hypotonia, Hypotonia |
OMIM:610015 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, A... |
OMIM:614561 |
| Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia, Jaundice |
ORPHA:33574 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Athetosis, Dystonia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Elevated ... |
OMIM:612073 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Opisthotonus, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, Generalized hypotonia, Hy... |
OMIM:210210 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Methylmalonic aciduria, Short stature, Elevated circulating creatine kinase concentrati... |
ORPHA:1933 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Generalized hypotonia, Hyperammonemia |
OMIM:614111 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Cholestasis, Death ... |
OMIM:618641 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Hypotonia, Aminoaciduria, Generalized hypotonia |
OMIM:609560 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Abnormal pyramidal sign, Tremor, Ataxia, Incoordination, Generalized hypotonia, Hy... |
OMIM:614947 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Ataxia, Micropenis, Postnatal growth retardation, Spasticity, Muscular hypotoni... |
OMIM:300067 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Stereotypy, Tremor, Ataxia, Generalized hypotonia |
OMIM:617862 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Growth delay, Ascites, Failure ... |
OMIM:251880 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
| Homocarnosinosis |
|
Spastic paraplegia, Carnosinuria |
OMIM:236130 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Intrauterine growth retardation, Elevated circulating long chain fatty acid concent... |
OMIM:214110 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Short stature, Failure to thrive, Hypophosphatemia, Stere... |
ORPHA:213 |
| Hydroxykynureninuria |
|
Hypertonia, Renal tubular dysfunction, Aminoaciduria |
OMIM:236800 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Weight loss, Extrapyramidal dyskinesia, Hyperammonemi... |
ORPHA:134 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Opisthotonus, Spontaneous abortion, Poor eye contact, Increased urinary taurine, Hy... |
OMIM:615501 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly |
ORPHA:52416 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Increased level of L-glutamic acid in blood, Hyperammonemia |
OMIM:237310 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Oroticaciduria, Leukopenia, Short stature, Failure to thrive, Anemia, Pancreatitis,... |
OMIM:222700 |
| Rett Syndrome |
|
Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Hyperammonemia, Stereotypica... |
ORPHA:778 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Growth delay, Hyperthreoninuria, Hyperthreoninemia, Eye poking |
OMIM:204000 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Generalized aminoaciduria, Renal tubular dysfunction |
OMIM:606528 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Short stature, Nephrocalcinosis, Large for gestati... |
OMIM:616026 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
| 3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Aminoaciduria |
OMIM:236795 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Homocystinuria, Megaloblastic anemia, ... |
OMIM:236270 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Atax... |
OMIM:271980 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Elevated circulating creatine kinase concent... |
ORPHA:26791 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the ... |
OMIM:616921 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Growth delay, Ascites, Short stature, Iron deficiency an... |
ORPHA:1667 |
| Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Cystinuria, Nephrolithiasis, Hypotonia |
ORPHA:163690 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Ataxia, Spasticity, Apraxia, Premature ovarian insufficiency |
OMIM:615889 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Epis... |
OMIM:311250 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Ketonuria, Leukopenia, Lipid accumulation in hepatocy... |
ORPHA:20 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration |
ORPHA:35878 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Duplicated collecting system,... |
OMIM:617093 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Proximal tu... |
OMIM:231680 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Hemiballismus, Muscular hypotonia of the trunk |
ORPHA:494526 |
| Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia, Ataxia, Infantile muscular hypotonia, Tetraparesis |
ORPHA:3129 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Tremor, Generalized hypotonia, Hypotonia |
OMIM:159900 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, G... |
OMIM:614520 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Dystonia, Chorea, Weight loss, Parkinsonism |
ORPHA:98934 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria, Small for gestational age, Failure to thrive, Elevated circulating creatine kinase... |
OMIM:609015 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Generalized hypotonia, Hypo... |
OMIM:213200 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Hypertonia, Generalized hypotonia, Hypotonia, Thrombocytopenia, Organic aciduria |
OMIM:253270 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Low pl... |
OMIM:237300 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Intrauterine growth retardation, Growth delay, Methylmalonic aciduria, Lacticac... |
OMIM:245400 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Dystonia, Clonus, Myoglobinuria, Poor coordination, Elevated circulating creatine kinase concentr... |
OMIM:616878 |
| Wilson Disease |
|
Hepatomegaly, High nonceruloplasmin-bound serum copper, Dystonia, Renal tubular dysfunction, Hype... |
OMIM:277900 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Clonus, Oroticaciduria, Poor coordination, Failure to thrive, Spastic gait, Hepatit... |
ORPHA:415 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ureteral duplication, Hydro... |
OMIM:608836 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... |
OMIM:220110 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hypercalcemia, Calcinosis, Hyperphosphaturia, Aminoaciduria, Failure to thrive, Ane... |
OMIM:239200 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Short stature, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosur... |
OMIM:134600 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Failure to th... |
ORPHA:436271 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Hyperammonemia... |
ORPHA:99901 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Dystonia, Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity... |
OMIM:615924 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... |
ORPHA:228308 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia, Hypotonia |
OMIM:261630 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cy... |
OMIM:277400 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Conjugated hyperbilirubi... |
OMIM:617049 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Neutropenia, Growth delay, Tremor, Hypertonia, Generalized hypotonia,... |
OMIM:617248 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperhomocystinemia, Hypomethioninemia, Hypotonia, Neutropenia, Methylmalonic acidemia, Intrauter... |
ORPHA:79282 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Ataxia, Muscular hypotonia of the trunk, Tremor |
OMIM:618951 |
| Biotinidase Deficiency |
|
Hepatomegaly, Hyperammonemia, Splenomegaly, Ataxia, Generalized hypotonia, Hypotonia, Organic aci... |
OMIM:253260 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Aciduria, Generalized hypotonia |
OMIM:617950 |
| Atypical Rett Syndrome |
|
Involuntary movements, Dystonia, Hypotonia, Limb myoclonus, Growth delay, Tongue thrusting, Poor ... |
ORPHA:3095 |
| Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Citrullinemia, Classic |
|
Hepatomegaly, Oroticaciduria, Failure to thrive, Hyperglutaminemia, Hypoargininemia, Hyperammonem... |
OMIM:215700 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypotonia, Stereotypical hand wringing |
OMIM:619561 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperamm... |
OMIM:212138 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Nephrolithiasis, Aspartic aciduria |
OMIM:222730 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Small for gestational age, Choreoathetosis, Bradykinesia, Hyperphenylalaninem... |
OMIM:261640 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Involuntary movements, Babinski sign, Clonus, Dystonia, Elevated circulating creatine kinase conc... |
ORPHA:480864 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Urinary incontinence, Parki... |
OMIM:618093 |
| Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... |
OMIM:613388 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Oroticaciduria, Hepatic fibrosis, Failure to thrive, Hyperglutaminemia, Hypoarginin... |
OMIM:207900 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Rowley-Rosenberg Syndrome |
|
Right ventricular hypertrophy, Aminoaciduria, Growth delay |
OMIM:268500 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| 5-Oxoprolinase Deficiency |
|
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis |
OMIM:260005 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia |
OMIM:606762 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypouricemia, Xanthinuria, Increased urinary thiosulfate, Myoclonic spasms, Opisthotonus, Growth ... |
OMIM:252150 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Oromandibular dystonia, Bradykinesia, Hypermanganesemia, T... |
ORPHA:521406 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Neonatal death, Functional abnormality of the bladder, Spastic paraple... |
OMIM:300076 |
| Leigh Syndrome |
|
Ethylmalonic aciduria, Renal tubular dysfunction, Neutropenia, Lacticaciduria, Complex organic ac... |
ORPHA:506 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Hypotonia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cystathion... |
OMIM:277380 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... |
OMIM:232700 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... |
OMIM:616733 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Tremor, I... |
ORPHA:79234 |
| Juvenile Huntington Disease |
|
Dystonia, Rigidity, Oral motor hypotonia, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressi... |
ORPHA:248111 |
| Hypertryptophanemia |
|
Hypertryptophanemia, Tryptophanuria |
OMIM:600627 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:615605 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Bence Jones Proteinuria, Anemi... |
ORPHA:100024 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lowe... |
OMIM:600363 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Nephrocalcinosis,... |
OMIM:616084 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... |
OMIM:600649 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Generalized hypotonia, Hypotonia |
OMIM:616127 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Weight loss, Slender build, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:613662 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Failure to thrive, Cystinuria, Hypocalcemia, Nephrolithiasis, Gen... |
OMIM:606407 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Intrauterine growth retardation, Poor eye contact, Hypercholesterolemia, Postnatal growth retarda... |
ORPHA:254531 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophos... |
OMIM:300009 |
| Biliary Malformation With Renal Tubular Insufficiency |
|
Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive, Glycosuria, Biliary hype... |
OMIM:210550 |
| Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Intrauterine growth retardation |
OMIM:617557 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Failure to thrive, Anemia, Hyperammonemia, Cirrho... |
OMIM:615486 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonem... |
OMIM:616457 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Ataxia, Proteinuria, Generalized hypotonia, Thrombocytopenia, Aminoaciduria, Macroth... |
OMIM:603585 |
| Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Generalized aminoaciduria |
OMIM:136550 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Short stature, Urocanic aciduria |
OMIM:276880 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... |
ORPHA:231144 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Growth delay, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Transien... |
OMIM:612716 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Growth delay, Hepatocellular carcinom... |
ORPHA:2088 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Focal segmental glomerulosclerosis, Nephrotic syndrome, Myoclonus, Intention tre... |
OMIM:254900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Growth delay, Methylmalonic aciduria, H... |
OMIM:614857 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Ataxia, Thrombocyt... |
OMIM:249270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia |
OMIM:615453 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia,... |
ORPHA:251282 |
| Dent Disease |
|
Tubulointerstitial fibrosis, Hyperuricosuria, Non-acidotic proximal tubulopathy, Renal hypophosph... |
ORPHA:1652 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle clonus, Spasticity, ... |
OMIM:617013 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dystonia, Focal dystoni... |
ORPHA:216873 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase co... |
ORPHA:26793 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Growth delay, Hypokalemia, Increased urinary potassium, ... |
ORPHA:3337 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Short stature, Bradykinesia, Tremor, Ataxia, Generalized hypotonia |
OMIM:617836 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Increased circulating free fatty ... |
ORPHA:941 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Myoclonus, Tremor, Ataxia, Generalized hypotonia, Hypotonia, Abnormal pyramidal sign |
OMIM:612016 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait at... |
OMIM:616719 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Spastic tetraparesis, Ataxia, Spasticity, Aminoaciduria, Hemiplegia/hemiparesis |
ORPHA:833 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Short stature, Splenomegaly, Tremor, Ataxia, Nephropathy, Generalized hypo... |
ORPHA:87876 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Micropenis, Acute pancreatitis, Portal hypertension, Hemolytic anemia, Intrau... |
OMIM:619487 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Canavan Disease |
|
Increased circulating N-Acetylaspartic acid concentration, Elevated urinary N-acetylaspartic acid... |
OMIM:271900 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Intrauterine growth retardation, Dysmetria, Tremor, Generalized hypotonia, Hyp... |
OMIM:615578 |
| Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Alaninuria, Severe short stature |
OMIM:202900 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Weight loss |
ORPHA:70482 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Intrauterine growth retardation, Lacticaciduria, Neonatal death, Elevated urinary 4-hydroxybutyri... |
OMIM:619003 |
| Dermotrichic Syndrome |
|
Proportionate short stature, Anemia, Aminoaciduria |
ORPHA:99688 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
| Distal Renal Tubular Acidosis |
|
Paralysis, Hyperphosphaturia, Growth delay, Short stature, Hypokalemia, Failure to thrive, Nephro... |
ORPHA:18 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin... |
ORPHA:159 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia,... |
OMIM:612953 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
| Glutaric Acidemia I |
|
Hepatomegaly, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive, Glutaric acid... |
OMIM:231670 |
| Galactosemia |
|
Postural tremor, Hepatomegaly, Secondary amenorrhea, Hypergalactosemia, Oligomenorrhea, Dystonia,... |
ORPHA:352 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity, Muscular hypotoni... |
OMIM:612438 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria, Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Growth delay, Spasticity |
OMIM:278780 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Intrauterine growth retardation, Frequent falls, Weight loss, Proportionate short ... |
ORPHA:3208 |
| Huntington Disease |
|
Clumsiness, Involuntary movements, Clonus, Babinski sign, Dystonia, Rigidity, Abnormal circulatin... |
ORPHA:399 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... |
OMIM:277410 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Generalized hypotonia, Limb ataxia, G... |
ORPHA:98763 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Weight loss, Splenomegaly, Ataxia |
ORPHA:98293 |
| Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level |
ORPHA:930 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal... |
ORPHA:292 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Growth delay, Rigidity, Small for gestational age, Cerebral palsy, Bra... |
ORPHA:70594 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Myoclonic spasms, Opisthotonus, Growth delay, Xanthine nephrolithiasis, Increased u... |
OMIM:252160 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Fumarase Deficiency |
|
Polycythemia, Failure to thrive, Hyperbilirubinemia, Cholestasis, Generalized hypotonia, Hypotoni... |
OMIM:606812 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Failure to thrive, A... |
OMIM:124000 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
| Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Cerebral palsy, Weight loss, Hematuria, Anemia, Neoplasm of the l... |
ORPHA:69077 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Hyperphosphaturia, Growth delay, Short stature, Hypokalemia, F... |
ORPHA:47159 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Growth delay, Choreoathetosis, Tremor, Ataxia, Death in childhood, Muscular hypotonia o... |
OMIM:619422 |
| Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity, Hypotonia |
ORPHA:33445 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Gener... |
OMIM:143880 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Poor eye contact, Spasticity |
OMIM:300983 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:314632 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Failur... |
OMIM:613179 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Generalized hypotonia, Tremor |
OMIM:617917 |
| Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Frequent falls, Dysmetria, Chorea, Weight loss, Bradykinesia, ... |
ORPHA:157941 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Leukocytosis, Clonus, Hepatomegaly, Dystonia, Growth delay, Choreoathetosis, Frequent... |
OMIM:615673 |
| Cystinosis, Nephropathic |
|
Short stature, Splenomegaly, Microscopic hematuria, Male infertility, Polyuria, Decreased plasma ... |
OMIM:219800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Growth delay, Hypocalcemic seizures, Failure to thrive, Hypophosphatem... |
OMIM:264700 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia, Short stature |
ORPHA:1368 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:86893 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Head titubation, Short stature, Choreoathetosis, Failure to thrive, Tremor, Ataxia, Gen... |
OMIM:312080 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria, Hyperalaninemia, Hyperprolinemia, Muscular hypotonia of the trunk, Neonatal hypot... |
ORPHA:79246 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperphosphaturia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... |
OMIM:227810 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Generalized... |
OMIM:201450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Parkinsonism, Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Facial hypotonia, Bradykine... |
OMIM:300055 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Small for gestational age, Delayed social development, Glycosuria, Generalized hypoton... |
OMIM:618857 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Death in infancy, Intrauterine growth retardation, Hyperglutaminemia, Elev... |
OMIM:619355 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxi... |
OMIM:614831 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Hypogonadism, Tremor, Ataxia |
OMIM:201100 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... |
ORPHA:85450 |
| Ddost-Cdg |
|
Oromotor apraxia, Short stature, Failure to thrive, Tremor, Hepatic steatosis, Nephrotic range pr... |
ORPHA:300536 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Generalized hypotonia, Gait ataxia |
OMIM:618587 |
| Trisomy X |
|
Secondary amenorrhea, Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypotonia |
ORPHA:3375 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Hypotonia, Abnormal pyramidal sign |
ORPHA:139485 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Jaundice |
OMIM:616483 |
| Biotinidase Deficiency |
|
Organic aciduria, Hyperammonemia, Ataxia, Hypotonia, Spastic paraparesis |
ORPHA:79241 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Nephrotic syndrome, Anemia, Tremor, Hypertonia, Nephropathy, Proteinuria |
ORPHA:1192 |
| Hartnup Disease |
|
Neutral hyperaminoaciduria, Short stature, Ataxia, Hypotonia, Abnormal urinary color |
ORPHA:2116 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemic seizures, Short stature, Failure to thrive, Hypophosphate... |
ORPHA:289157 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Myoclonus, Hypogonadism, Ataxia, Tremor, Hypotonia |
ORPHA:97229 |
| Dopa-Responsive Dystonia |
|
Dystonia, Arm dystonia, Rigidity, Poor coordination, Muscular hypotonia of the trunk, Abnormality... |
ORPHA:255 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Vocal cord paralysis, Hematuria, Tremor... |
ORPHA:94080 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Growth delay, Hypokalemia, ... |
ORPHA:411629 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hepatomegaly, Hypotonia, Hydronephrosis, Elevated circulating long chain fatty acid ... |
OMIM:214100 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Hemolytic anemia, Rigidity |
OMIM:615010 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign, Mu... |
OMIM:617435 |
| Hyperprolinemia Type 2 |
|
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hyperglycinemia... |
ORPHA:79101 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hypotonia, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... |
ORPHA:1170 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... |
ORPHA:397946 |
| Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Weight loss, Anemi... |
OMIM:209950 |
| 4H Leukodystrophy |
|
Dystonia, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyramidal ... |
ORPHA:289494 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Generalized hypotonia, Rigidity, Tremor |
OMIM:618090 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia, Short stature |
ORPHA:2574 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Tongue fasciculations |
ORPHA:276435 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Clonus, Growth delay, Ascites, Short stature, Anemia, Stillbirth, Decreased osteocl... |
OMIM:259720 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Hypotonia, Cachexia |
ORPHA:1216 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Myoclonus, Anemia, Elevat... |
OMIM:256700 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hypotonia, Cachexia, Death in infancy |
ORPHA:157973 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Urinary retention, Tremor, Te... |
OMIM:616586 |
| Corticobasal Syndrome |
|
Involuntary movements, Dystonia, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Brady... |
ORPHA:454887 |
| Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Tremor,... |
ORPHA:765 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Short stature, Increased body mass index, Truncal obesity, Tremor, Hyp... |
OMIM:300957 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Urinary bladder sphincter dysfunction, Dysmetria, Myoclonus, Bradykine... |
OMIM:183090 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Dystonia, Tremor, Spastic diplegia, Postnatal growth retardation, Generalized hypotonia, Obesity |
ORPHA:480907 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Stereotypy, O... |
|
