| Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal ci... |
ORPHA:3124 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly, Short stature, Recurrent fractures |
ORPHA:417 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay |
ORPHA:79238 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... |
ORPHA:882 |
| Saccharopinuria |
|
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Short stature... |
OMIM:268700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... |
OMIM:174000 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Elevated urinary for... |
OMIM:229100 |
| Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Neonatal hypotonia, Increased circulatin... |
OMIM:603358 |
| Dibasic Amino Aciduria I |
|
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic paraplegia, Spasticity, Spastic paraparesis, Failure to thrive, Acute hepatitis, Hypotoni... |
OMIM:238970 |
| Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u... |
OMIM:617585 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Spasticity, Organic aciduria, Failure to thrive in infancy, Hypotonia, Hyperammonemia, Abnormal c... |
ORPHA:6 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... |
ORPHA:1200 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Hypotonia, Renal insufficiency, Hyperammonemia, Hemiplegia/hemiparesis, Renal tubular dys... |
ORPHA:289916 |
| Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... |
OMIM:239510 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia |
ORPHA:33574 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Narrow mouth, Ventricular septal defect |
OMIM:270460 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Dibasicaminoaciduria, Growth delay |
OMIM:238750 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hypotonia, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication |
ORPHA:147 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Hypotonia, Chorea, Hyperhomocystinemia... |
OMIM:309541 |
| Hsd10 Disease |
|
Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile... |
ORPHA:391417 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Generalized hypotonia, Hypotonia, Hyperprolinemia... |
OMIM:239500 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Severe short stature, Failure to thrive, Aminoaciduria |
ORPHA:2278 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Spasticity, Failure to thrive, Ascites, Hypotonia, Intrauterine growth retardation, Hyperammonemi... |
OMIM:614702 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hypotonia, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreat... |
ORPHA:79312 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... |
OMIM:160120 |
| Threoninemia |
|
Hyperthreoninuria, Growth delay |
OMIM:273770 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine, Camptodactyly of toe, Camptodactyly of finger |
ORPHA:1325 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Argininemia |
|
Progressive spastic quadriplegia, Diaminoaciduria, Hyperammonemia, Hemiplegia/hemiparesis |
ORPHA:90 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Neonatal hypotonia, Hyperammonemia, Decreased body weight, Short stature, Sp... |
OMIM:618721 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Anisocytosis, Ca... |
OMIM:604273 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Alaninuria, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:615158 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Spasticity, Neonatal hypotonia, Intrauterine growth retardation, Hyperammonemia, Death in infancy... |
OMIM:610678 |
| Hydroxykynureninuria |
|
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level |
OMIM:236800 |
| Camptodactyly 1 |
|
Increased urinary taurine, Camptodactyly of finger |
OMIM:114200 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose |
ORPHA:2015 |
| Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Increased total bilirubin, Hypotonia, Death in infancy, Abnormality of extr... |
OMIM:616299 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Generalized hypotonia, Hypotonia, Gait at... |
OMIM:612075 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Spasticity, Failure to thrive, Generalized hypotonia, Hypotonia, Hyperammonemia, 3-Methylglutacon... |
OMIM:614739 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hypotonia, Renal insufficiency, Hyperammonemia, Anemia, Hepatomegaly |
ORPHA:28 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Osteoporosis, Aminoaciduria |
OMIM:204730 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Elevated urinary 7-biopterin level, Generalized hypotonia, Tremor, Hyperphenylalaninemia, Hyperto... |
OMIM:264070 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Failure to thrive, Decreased liver function, Elevated circulating as... |
OMIM:230400 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricular septal ... |
ORPHA:261120 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Failure to thrive, Umbilical hernia, Generalized hypotoni... |
OMIM:614052 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Narrow mouth, Ventricular septal defect, Abnormal nasal morphology, Hydro... |
ORPHA:83473 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Generalized hypotonia, Ascites, Hypotonia, Hyperammonemia, Death in infancy, Abnormal renal tubul... |
OMIM:611719 |
| Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Stimmler Syndrome |
|
Short stature, Intrauterine growth retardation, Aminoaciduria |
ORPHA:3199 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Generalized hypotonia, Hyperammonemia, Elevated circulating creatine kinase concentration, Ataxia... |
OMIM:618416 |
| Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge, Hydrocephalus |
OMIM:209970 |
| Propionic Acidemia |
|
Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Pancytopenia, Hype... |
OMIM:606054 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hyperammonemia, Death in childhood, Low plasma citrulline, Spastic tetraparesis, Hemiball... |
OMIM:618567 |
| Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Generalized hypotonia, Sulfocysteinuria, Hemiplegia, Decreased urinary sulf... |
OMIM:272300 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Hypotonia, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anem... |
ORPHA:27 |
| Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Isolated Atp Synthase Deficiency |
|
Spastic paraplegia, Renal hypoplasia, Hypogonadism, Hypotonia, Hyperammonemia, 3-Methylglutaconic... |
ORPHA:254913 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Dent Disease 2 |
|
Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Generalized hypotonia, Hypotonia, Hyperglycinemia, Myoclonus, Death in infancy |
OMIM:605899 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... |
OMIM:609637 |
| Valinemia |
|
Hyperkinetic movements, Hypervalinemia, Failure to thrive, Valinuria |
OMIM:277100 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Hypotonia, Intrauterine growth retardation, Hyperammonemia, Death in infancy, 3-Meth... |
ORPHA:1194 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Hypophosphatemic rickets, L... |
OMIM:618913 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Failure to thrive, Methylmalonic aciduria, Generalized hypotonia, Hypotonia, Pancytope... |
OMIM:251100 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia |
OMIM:231900 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
| Hartnup Disorder |
|
Short stature, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria |
OMIM:234500 |
| Trimethylaminuria |
|
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia |
OMIM:602079 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypotonia, Hyperglycinemia, Hepatic steatosis, Death in infancy, Hyperamylasemia, ... |
OMIM:619386 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Hyperlysinuria, Failure to thrive, Incoordination, Elevated circulating 2-trans,4-cis... |
OMIM:616034 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypotonia, Hepatic steatosis, Hype... |
ORPHA:42 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... |
OMIM:615605 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Renal tubular dysfunction |
OMIM:606528 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Spasticity, Generalized hypotonia, Intrauterine growth retardation, Hyperammonemia, Craniofacial ... |
OMIM:618253 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... |
OMIM:613404 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria |
OMIM:260005 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Failure to thrive, Cer... |
OMIM:210210 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hypotonia, Hyperammonemia, Weight loss, Thrombocytopenia, Ataxia, Growth delay |
ORPHA:79242 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Congenital Disorder Of Glycosylation, Type Ip |
|
Neonatal hypotonia, Hypotonia, Hyperammonemia, Death in childhood, Opisthotonus |
OMIM:613661 |
| Hsd10 Disease, Infantile Type |
|
Poor coordination, Spastic tetraparesis, Hypotonia, Hyperammonemia, Abnormality of the lower urin... |
ORPHA:391428 |
| Citrullinemia Type I |
|
Spasticity, Failure to thrive, Hypotonia, Hyperammonemia, Ankle clonus, Torticollis, Ataxia, Elev... |
ORPHA:247525 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... |
ORPHA:30 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Ketonuria, Failure to thrive, Elevated urinary 3-methylcrotonylglycine l... |
OMIM:210200 |
| Indolylacroyl Glycinuria With Impaired Intellectual Development |
|
Hyperglycinuria |
OMIM:243050 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Fa... |
OMIM:208085 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Spasticity, Decreased circulating carnitine concent... |
OMIM:246450 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Rickets... |
OMIM:616026 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Hypotonia, Argininuria, Clumsiness, Hyperlysinemia, Cystinuria,... |
OMIM:238700 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Pulmonary hemorrhage, Proteinuria, Neutropenia, Thrombocytopenia, Macrothrombocyto... |
OMIM:603585 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Cerebral palsy, Spastic tetraparesis, Generalized dystonia, Oroticaciduria, Hy... |
OMIM:620358 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Failure to thrive, Hypotonia, Myoclonus, Dysmetria, Head titubation, Ataxia, Trunc... |
OMIM:250620 |
| Spastic Paraparesis And Deafness |
|
Short stature, Spastic paraparesis, Tremor, Hypogonadism |
OMIM:312910 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Anteverted nares, High palate, Short philtrum, Short nose |
ORPHA:217340 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Hypotonia, Tremor, Ataxia |
OMIM:213000 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria |
OMIM:204750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Generalized hypotonia, Intrauterine growth retardation, Limb ataxia, Hyperammonemia, Cardiomegaly... |
OMIM:619051 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Death in childhood, Tremor, Dystonia, Axial hypotonia |
OMIM:619651 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Spasticity, Hepatic fibrosis, Failure to thrive, Postn... |
OMIM:617093 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... |
OMIM:613388 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Generalized hypotonia, Dicarbox... |
OMIM:212140 |
| Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Osteopenia, Failure to... |
ORPHA:2088 |
| Hypertryptophanemia |
|
Limited elbow extension, Generalized joint hypermobility, Camptodactyly of finger, Tryptophanuria |
OMIM:600627 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... |
ORPHA:1906 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... |
OMIM:134600 |
| Hyperlysinemia |
|
Poor motor coordination, Hypoornithinemia, Hyperlysinuria, Failure to thrive, Hyperammonemia, Dys... |
ORPHA:2203 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hypoornithinemia, Failure to thrive, Umbilical hernia, Hypotonia, Intrauterine growth retardation... |
OMIM:219150 |
| Chromosome 15Q14 Deletion Syndrome |
|
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... |
OMIM:616898 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Intrauterine growth retardation, V... |
ORPHA:2515 |
| Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Paraplegia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalan... |
ORPHA:927 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Failure to ... |
OMIM:605711 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a... |
OMIM:614520 |
| Immunodeficiency 50 |
|
Lymphopenia, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... |
OMIM:201475 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Argininemia |
|
Spastic paraparesis, Portal fibrosis, Micronodular cirrhosis, Reduced erythrocyte arginase activi... |
OMIM:207800 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Failure to thrive, Hemoph... |
OMIM:222700 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... |
ORPHA:1652 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... |
OMIM:231680 |
| Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive |
OMIM:612718 |
| Phenylketonuria |
|
Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia |
ORPHA:716 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Small for gestational age, Failure to thrive, Generalized hypoton... |
OMIM:619055 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Spasticity, Failure to thrive, Methylmalonic aciduria, Microcytic anemia, Hypotoni... |
OMIM:612073 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Abnormal heart morphology, Intrauterine growth retardation, Convex nas... |
OMIM:600252 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Generalized hypotonia, Hypotonia, Death in childhood, Elevated circulating creatin... |
OMIM:609560 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Anteverted nares, Intrauterine growth retardation, Gingival overgrowth, Me... |
ORPHA:1832 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Tetraparesis, Chorea, Hypotonia, Myoclonus, Hyperammonemia, Microvesicular hep... |
OMIM:616672 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Ventricular ... |
OMIM:615524 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypotonia, Intrauterine growth retardation, Limb dystonia, Obesity, Tremor, Ataxia |
OMIM:620270 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| 9q subtelomeric deletion syndrome |
|
Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose |
DECIPHER:52 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose |
ORPHA:46 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hyperammonemia |
ORPHA:35 |
| Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Short nose, Wide nose |
OMIM:125700 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Non-m... |
ORPHA:2476 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Homocystinuria, Failure to thrive, Methylmalonic aciduria, Hypotonia, Hypometh... |
OMIM:236270 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... |
OMIM:615285 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus |
ORPHA:1008 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Ataxia, Short ... |
ORPHA:23 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, High palate, Short nose |
OMIM:300577 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur... |
OMIM:615486 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Hypotonia, Myoclonus, Splenomega... |
ORPHA:812 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Renal insufficiency, Portal hypertension,... |
ORPHA:213 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Narrow mouth, Abnormal cardiac septum morphology, Thin vermilion... |
ORPHA:2370 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive |
OMIM:606762 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Increased susceptibility to fractu... |
ORPHA:18 |
| Weiss-Kruszka Syndrome |
|
Abnormal heart morphology, Exaggerated cupid's bow, Prominent nasal tip, Broad philtrum, Short nose |
ORPHA:502430 |
| Diprosopus |
|
Abnormality of the nose, Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of th... |
ORPHA:1681 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Generalized hypotonia, Dicarboxylic aciduria, Hypotonia, Hepatic steatosis, Hyperammon... |
OMIM:255120 |
| Dermotrichic Syndrome |
|
Aminoaciduria, Anemia, Proportionate short stature |
ORPHA:99688 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized hypotonia, Elevated circulating gamma-aminobutyric acid concentration, Hypotonia, Inc... |
OMIM:271980 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Prominent na... |
ORPHA:401935 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Neona... |
ORPHA:71212 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Spasticity, Neonatal hypotonia, Failure to thrive, Hypotonia, Myoclonus, Appendicu... |
OMIM:220120 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septa... |
OMIM:618506 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... |
ORPHA:309169 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Postnatal growth retardation, Lymphopenia, Leukopenia, Joint ... |
OMIM:620210 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Methylmalonic aciduria, Hypotonia, Leukopenia, Hyperglycinemia, Hyperammonemia... |
OMIM:251000 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Tooth agenesis, Open bite, Short columella, Microd... |
ORPHA:1248 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypogonadism, Hypotonia, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay |
ORPHA:163693 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Dandy-Walker ma... |
ORPHA:438178 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Chorea, Parkinsonism, Weight loss, Dystonia |
ORPHA:98934 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Hydroxyprolinuria, Thin bony cortex, Osteolysis |
OMIM:174810 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Glutamine Deficiency, Congenital |
|
Generalized hypotonia, Hypotonia, Hyperammonemia, Neonatal death, Hypoglutaminemia |
OMIM:610015 |
| Cystathioninuria |
|
Cystathioninuria, Cystathioninemia, Tremor, Nephrolithiasis |
ORPHA:212 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, ... |
OMIM:249270 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Short stature, Growth delay, Increased C-peptide level |
OMIM:620211 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Failure to thrive, Methylmalonic aciduria, Elevated circulating propionylcarnitine con... |
OMIM:251110 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase ... |
OMIM:618120 |
| Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration,... |
OMIM:619644 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Catel-Manzke Syndrome |
|
Ventriculomegaly, Oral synechia, Ventricular septal defect, Atrial septal defect, Glossoptosis, C... |
ORPHA:1388 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Lacticaciduria, Dysto... |
ORPHA:3008 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Cachex... |
ORPHA:1933 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia, Generalized hypotonia |
OMIM:614111 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Spasticity, Hemiplegia/hemiparesis, Ataxia, Spastic tetraparesis |
ORPHA:833 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Neonatal hypotonia, Generalized hypotonia, Intrauterine growth retardation, Hypotonia, Death in c... |
OMIM:610505 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoimmune hemolytic anemia, L... |
ORPHA:444463 |
| Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Growth delay, Failure to thrive, Nephrolithiasis |
ORPHA:163690 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ... |
OMIM:611590 |
| 17P13.3 Microduplication Syndrome |
|
Ventriculomegaly, Narrow mouth, High palate, Short nose, Wide nose |
ORPHA:217385 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
| Nemaline Myopathy 9 |
|
High palate, Cleft palate, Ventricular septal defect |
OMIM:615731 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate... |
OMIM:243500 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Enuresis, Decreased HDL cholesterol... |
ORPHA:247585 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hyperphosphaturia, Renal ... |
ORPHA:436271 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyur... |
OMIM:239200 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Failure to thrive, Be... |
OMIM:227810 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Neonatal hypotonia, Failure to thrive, Generalized hypotonia, Postnatal gro... |
OMIM:606407 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... |
OMIM:617752 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Cleft ... |
OMIM:601355 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Abnormal... |
ORPHA:2701 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Failure ... |
ORPHA:289157 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatati... |
OMIM:613443 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal hypotonia, Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steat... |
OMIM:608836 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... |
OMIM:616084 |
| Beta-Ketothiolase Deficiency |
|
Spasticity, Ketonuria, Hypotonia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, We... |
ORPHA:134 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Death in childhood, Splenomegaly, Hype... |
OMIM:618641 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal ... |
ORPHA:1913 |
| Alpha-Methylacetoacetic Aciduria |
|
Elevated urinary 2-methyl-3-hydroxybutyric acid level |
OMIM:203750 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Hypotonia, Deat... |
OMIM:615440 |
| Rett Syndrome |
|
Failure to thrive, Bradykinesia, Abnormal muscle tone, Cholecystitis, Hyperammonemia, Infantile m... |
ORPHA:778 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation,... |
OMIM:214110 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Small for gestational age, Failure to thrive, Hypotonia, Hyperammonemia, Renal tubul... |
OMIM:615471 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Megaloblastic anemia, Neutropenia, Sho... |
OMIM:250940 |
| Sarcosinemia |
|
Tetraparesis, Infantile muscular hypotonia, Ataxia, Hypersarcosinuria, Hypersarcosinemia |
ORPHA:3129 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis |
OMIM:601466 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Ataxia, Generalized hypotonia, Dysmetria, Elev... |
OMIM:618384 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Generalized hypotonia, Hypotoni... |
OMIM:253270 |
| Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Hepatomegaly, Growth delay |
OMIM:204000 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ... |
OMIM:251880 |
| Dystonia 11, Myoclonic |
|
Hypotonia, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Ascites, Exocrine pancreatic insufficiency, Abnormality ... |
ORPHA:1667 |
| Molybdenum Cofactor Deficiency, Type C |
|
Hypouricemia, Increased urinary taurine, Hypocystinemia, Generalized hypotonia, Neonatal death, L... |
OMIM:615501 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... |
ORPHA:470 |
| Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:147800 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intra... |
OMIM:220210 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... |
ORPHA:26791 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Failure to thrive, Glycosuria, Generalized hypotonia, Hypotonia, Death in childhoo... |
OMIM:220110 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Intrauterine growth retardation, Truncus arteriosus, Thin upper lip ve... |
OMIM:611867 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
| Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Oroticaciduria, Hypotonia, Acanthocytosis, Death in childhood, Hyperammonemia,... |
OMIM:616457 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia |
ORPHA:35878 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Ventriculomegaly, Intrauterine growth retardation, Narrow mouth, Abnormal palate morphology, Shor... |
ORPHA:1495 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Everted lower lip vermilion, Convex nasal ridge, High palate, Short nose |
ORPHA:1695 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Spasticity, Ketonuria, Hypotonia, Leukopenia, Myoclonus, Spastic hemip... |
ORPHA:20 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Poor coordination, Ketonuria, Generalized hypot... |
OMIM:616878 |
| Severe Canavan Disease |
|
Joint stiffness, Elevated urine N-acetylaspartic acid level |
ORPHA:314911 |
| Oculoauriculofrontonasal Syndrome |
|
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Narrow mouth, Encephalocele, Ventricular s... |
ORPHA:398156 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia |
OMIM:618425 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus, Axial hypotonia |
OMIM:616921 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... |
OMIM:300558 |
| Glutathionuria |
|
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis |
OMIM:231950 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Ataxia, Episodic ammon... |
OMIM:237300 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegal... |
OMIM:617913 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, U-Shaped upper lip vermilion |
OMIM:129850 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hyperammonemia, Death in infancy, Elevated circulating creatine kinase concentration, Neonatal de... |
OMIM:620300 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Frequent falls, Hemiballismus, Axial hypotonia |
ORPHA:494526 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion border, Pulmonic s... |
ORPHA:251076 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Hypotonia, Intrauterine growth retardation, Hyperglycinemia, Severe muscular hypotonia, Beta-amin... |
OMIM:615330 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal heart morphology, Bulbous nose, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic paraplegia, Hepatitis, Failure to thrive, Generalized hypotonia, Oroticaciduria, Speech a... |
ORPHA:415 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Urinary in... |
OMIM:618093 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... |
OMIM:615924 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... |
OMIM:137550 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Osteomala... |
ORPHA:3337 |
| Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
ORPHA:1918 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Intrauterine growth retardation, Tremor, ... |
OMIM:617744 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Netherton Syndrome |
|
Aminoaciduria, Emphysema, Hydronephrosis, Short stature, Recurrent respiratory infections, Ectopi... |
ORPHA:634 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cholestasis, Hypotonia, Hype... |
OMIM:609015 |
| Mmep Syndrome |
|
Median cleft upper lip, Orofacial cleft, Ventricular septal defect |
ORPHA:3434 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Involuntary movements, Ketonuria, Incoordinatio... |
ORPHA:480864 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
| Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia,... |
OMIM:215700 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Dextrot... |
OMIM:619995 |
| Combined Oxidative Phosphorylation Deficiency 14 |
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Aminoaciduria, Hypotonia, Myoclonus, Death in childhood, Death in infancy, Increased hepatic glyc... |
OMIM:614946 |
| Primary Dystonia, Dyt13 Type |
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Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Aicardi-Goutieres Syndrome 4 |
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Ventriculomegaly, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, CSF lymphocy... |
OMIM:610333 |
| Teebi Hypertelorism Syndrome 2 |
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Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... |
OMIM:619736 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Generalized neonatal hypotonia, Failure to thrive, Methylmalonic aciduria, Intrauterine growth re... |
OMIM:245400 |
| Meckel Syndrome, Type 8 |
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Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Encephalocele, Short nose, Peric... |
OMIM:613885 |
| Congenital Heart Defects, Multiple Types, 4 |
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Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Muscular Dystrophy, Cardiac Type |
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Carnosinuria |
OMIM:309930 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Wide nasal bridge, Ventriculomegaly, Long philtrum, Anteverted nares, Hydrocephalus, Broad philtr... |
OMIM:618577 |
| N-Acetylglutamate Synthase Deficiency |
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Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, H... |
OMIM:237310 |
| Juvenile Huntington Disease |
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Oral motor hypotonia, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Weight loss, Ataxia, Br... |
ORPHA:248111 |
| Cerebral Creatine Deficiency Syndrome 2 |
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Elevated circulating guanidinoacetic acid concentration, Hypotonia, Myoclonus, Tremor, Rigidity, ... |
OMIM:612736 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
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Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Argininosuccinic Aciduria |
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Aminoaciduria, Hepatic fibrosis, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased cir... |
OMIM:207900 |
| Aminopterin/Methotrexate Embryofetopathy |
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Wide nasal bridge, Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs... |
ORPHA:1908 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Abnormal hear... |
ORPHA:284169 |
| Transcobalamin Deficiency |
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Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... |
ORPHA:859 |
| Meckel Syndrome, Type 4 |
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Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... |
OMIM:611134 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Red-brown urine, Generalized hypotonia, Dicarbo... |
ORPHA:228308 |
| Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infe... |
OMIM:615401 |
| Molybdenum Cofactor Deficiency, Type A |
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Hypouricemia, Decreased urinary urate, Increased urinary taurine, Abnormal muscle tone, Increased... |
OMIM:252150 |
| Infantile Sialic Acid Storage Disease |
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Anteverted nares, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, H... |
OMIM:269920 |
| Molybdenum Cofactor Deficiency, Type B |
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Hypouricemia, Decreased urinary urate, Increased urinary taurine, Hypotonia, Increased urinary hy... |
OMIM:252160 |
| Filippi Syndrome |
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Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Intrauterine growth retardation,... |
OMIM:272440 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Homocystinuria, Cystathioninemia, Failure to thrive, Cystathioninuria, Generalized hypotonia, Inc... |
OMIM:277380 |
| Mulibrey Nanism |
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Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Microglossia, Dental malocclusion, D... |
OMIM:253250 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
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Decreased urinary neopterin level, Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinet... |
OMIM:233910 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Tented upper lip vermilion, Thi... |
OMIM:615716 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
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Failure to thrive, Ascites, Hyperammonemia, Death in infancy, Cirrhosis, Jaundice, Conjugated hyp... |
OMIM:617049 |
| Phenylketonuria |
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Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... |
OMIM:261600 |
| Dystonia, Dopa-Responsive |
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Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Anencephaly 2 |
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Median cleft palate, Median cleft upper lip, Bifid nose, Cleft maxillary alveolar ridge, Anencephaly |
OMIM:619452 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Bifid uvula, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Anteverted nares, Prot... |
OMIM:612938 |
| Vitamin K Antagonist Embryofetopathy |
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Depressed nasal bridge, Choanal atresia, Myelomeningocele, Anteverted nares, Intrauterine growth ... |
ORPHA:1914 |
| Gómez-López-Hernández Syndrome |
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Thin vermilion border, Anteverted nares, Hydrocephalus |
ORPHA:1532 |
| Cystinosis, Nephropathic |
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Decreased circulating carnitine concentration, Oral motor hypotonia, Hematuria, Hypophosphatemia,... |
OMIM:219800 |
| Carnitine-Acylcarnitine Translocase Deficiency |
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Generalized hypotonia, Dicarboxylic aciduria, Hypotonia, Hepatic steatosis, Hyperammonemia, Eleva... |
OMIM:212138 |
| Aicardi-Goutieres Syndrome 6 |
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Intrauterine growth retardation, Splenomegaly, Tremor, Rigidity, Thrombocytopenia, Hepatomegaly, ... |
OMIM:615010 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Myoclonus, Tremor, Dystonia, Frequent falls, Axial hypotonia |
OMIM:619647 |
| Bruck Syndrome 2 |
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Osteopenia, Hydroxyprolinuria, Elbow flexion contracture, Increased susceptibility to fractures, ... |
OMIM:609220 |
| Huntington Disease-Like 2 |
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Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Xk Aprosencephaly Syndrome |
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Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal nostril morphology, Anal ... |
ORPHA:3469 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphop... |
OMIM:618935 |
| Burn-Mckeown Syndrome |
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Choanal atresia, Bifid uvula, Bilateral choanal atresia, Underdeveloped nasal alae, Bilateral cho... |
OMIM:608572 |
| Fried Syndrome |
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Short philtrum, High palate, Hydrocephalus |
ORPHA:85335 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Spasticity, Bradykinesia, Infantile axial hypotonia, Tremor, Ankle clonus, Babinski sign, Parkins... |
ORPHA:521406 |
| Skraban-Deardorff Syndrome |
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Depressed nasal bridge, Ventriculomegaly, Widely spaced teeth, Thick upper lip vermilion, Absent ... |
OMIM:617616 |
| Holzgreve Syndrome |
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Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Leigh Syndrome |
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Spasticity, 3-Methylglutaconic aciduria, Neutropenia, Ataxia, Nephrotic syndrome, Choreoathetosis... |
ORPHA:506 |
| Chudley-Mccullough Syndrome |
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Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
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Lateral ventricle dilatation, Bulbous nose, Oligodontia, Thin upper lip vermilion, Ventricular se... |
OMIM:618330 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Ketonuria, Methylmalo... |
ORPHA:79282 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
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Hypotonia, Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
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Depressed nasal bridge, Ventriculomegaly, Downturned corners of mouth, Prominent nasal bridge, Ve... |
OMIM:618974 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Depressed nasal bridge, Ventriculomegaly, Ventricular septal defect, Smooth philtrum, Hydrocephalus |
OMIM:602501 |
| Mulibrey Nanism |
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Short stature, Hepatomegaly, Intrauterine growth retardation, Cachexia |
ORPHA:2576 |
| Crigler-Najjar Syndrome Type 1 |
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Neonatal hyperbilirubinemia, Abnormality of the liver, Tremor, Biliary tract abnormality, Infanti... |
ORPHA:79234 |
| Acalvaria |
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Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate |
ORPHA:945 |
| Urocanase Deficiency |
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Gait ataxia, Action tremor, Dysmetria, Urocanic aciduria, Ataxia, Short stature, Truncal ataxia |
OMIM:276880 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Ventricular septa... |
OMIM:601357 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Wilson Disease |
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Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a... |
OMIM:277900 |
| Developmental And Epileptic Encephalopathy 36 |
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Hepatomegaly, Anteverted nares, Hydrocephalus |
OMIM:300884 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus |
OMIM:166990 |
| Immunoneurologic Disorder, X-Linked |
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Spastic paraplegia, Functional abnormality of the bladder, Neonatal hypotonia, Neonatal death, Sm... |
