Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Enlarged tonsils, Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, ... |
ORPHA:293964 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu... |
OMIM:260370 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased body weight, Abnormality of body weight |
ORPHA:314811 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Death ... |
OMIM:617156 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive in infancy |
OMIM:232700 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age |
OMIM:615935 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Abse... |
ORPHA:556955 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
Cyanosis And Hepatic Disease |
|
Hepatitis, Cyanosis |
OMIM:219400 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Deat... |
OMIM:609069 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:67046 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... |
ORPHA:2470 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus |
ORPHA:261265 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Macular atrophy |
OMIM:602499 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Pancytopenia, Hepatic steatosis |
OMIM:617872 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:171706 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Cataract 21, Multiple Types |
|
Iris coloboma, Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive, Anemia |
OMIM:610090 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... |
ORPHA:2255 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Coloboma |
ORPHA:324416 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca... |
ORPHA:369 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia |
OMIM:607578 |
Coats Disease |
|
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology |
ORPHA:190 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Diffuse pancrea... |
ORPHA:79644 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia |
OMIM:616113 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic ste... |
OMIM:261680 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... |
OMIM:613027 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:91130 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... |
OMIM:262190 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly |
OMIM:619048 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma |
OMIM:274270 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age |
ORPHA:231140 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Mehmo Syndrome |
|
Hypoglycemia, Obesity, Decreased response to growth hormone stimulation test, Small for gestation... |
OMIM:300148 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluco... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Small for gestational age |
OMIM:614702 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Adrenocorticotropic hormone deficiency, Jaundice, Cholestasis |
OMIM:201400 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hepatic steatosis, Pancreatitis, Death in infancy |
OMIM:619386 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice |
OMIM:214980 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive, Premature skin wrinkling |
OMIM:617950 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepa... |
OMIM:256810 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Diabe... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Failure to thrive, Cryptorchidism, Hepatomegaly |
OMIM:618958 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age |
ORPHA:231147 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Cirrhosis, Hypoglycemia, Death in infancy, Jaundice |
OMIM:617049 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Joubert Syndrome 22 |
|
Retinal dysplasia, Coloboma |
OMIM:615665 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Coloboma |
OMIM:614465 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis |
OMIM:257500 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Prima... |
ORPHA:97279 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Death in infancy, Neonatal hypoglycemia |
OMIM:619046 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Glycosuria, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasi... |
ORPHA:99885 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:246900 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hepatosplenomegaly,... |
ORPHA:79237 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Cryptorchidism |
OMIM:614736 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Coach Syndrome 2 |
|
Coloboma, Congenital hepatic fibrosis, Hepatic fibrosis, Portal fibrosis, Chorioretinal coloboma |
OMIM:619111 |
Glycogen Storage Disease Iii |
|
Hypoglycemia, Hepatic fibrosis, Hepatomegaly |
OMIM:232400 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy |
OMIM:215470 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Panhypopituitarism, Hypoglycemic seizures, Reduced circulating prolactin c... |
OMIM:262600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
Temple Syndrome |
|
Type II diabetes mellitus, Decreased response to growth hormone stimulation test, Small for gesta... |
ORPHA:254516 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism, Neonatal death, Paucity of anterior horn motor neurons, Abnormal anterior horn ce... |
OMIM:611890 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Abnormal erythrocyte morphology |
ORPHA:71277 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... |
ORPHA:811 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Cyanosis, Small for gestational age |
ORPHA:621 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Hypoglycemia, Ectopic posterior pituitary, Death in infancy, Cryptorchidism |
ORPHA:95496 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Death in childhood, Neonatal death, Hypoglycemia, Death in infancy |
OMIM:245400 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Failure to thrive, Cyanosis, Mediastinal lymphadenopathy |
ORPHA:91359 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly,... |
OMIM:602782 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Cyanosis |
OMIM:240200 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Cryptorchidism, Small for gestational age |
OMIM:307030 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Cyanosis |
OMIM:263000 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive |
ORPHA:163693 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Failure to thrive |
ORPHA:289504 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Hypoglycemia, Neutropenia, Thrombocyto... |
OMIM:251000 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Iris coloboma, Cryptorchidism, Chorioretinal coloboma |
ORPHA:921 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Increased... |
ORPHA:94086 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice |
OMIM:616483 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen |
ORPHA:1666 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:2394 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Retinal detachment, Coloboma |
OMIM:613153 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia |
OMIM:201910 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm |
OMIM:615113 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Hemorrhagic ovarian cyst, Decreased t... |
ORPHA:335 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Polycystic ovaries, Increased body weight, Weight loss, Enlarged po... |
ORPHA:2298 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Propionic Acidemia |
|
Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hypoglycemia, Pancytopenia, Anemia, T... |
OMIM:606054 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Cholestasis... |
OMIM:246200 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... |
ORPHA:324737 |
Abcd Syndrome |
|
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic ... |
OMIM:600501 |
Laron Syndrome |
|
Hypoglycemia, Prematurely aged appearance, Truncal obesity |
ORPHA:633 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Panhypopituitari... |
ORPHA:95619 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Increased body weig... |
ORPHA:264580 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Cyanosis, Hypoxemia, Weight loss |
ORPHA:1302 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age |
OMIM:615160 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Death in childhood, Hypoglycemia, Death in infancy, Thrombocyto... |
OMIM:611126 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Iris coloboma, Retinal atrophy |
OMIM:616722 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... |
ORPHA:2126 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Failure to thrive, Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Anemia, Neonatal death, Death in infancy |
OMIM:618835 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea... |
OMIM:231680 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Anemia, Neonatal death, Death in infancy |
OMIM:618839 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Small for gestational age |
ORPHA:231137 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Death in childhood, Death in adolescence, Neonatal ... |
OMIM:619055 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Hepatomegaly, Small for gestational age, Cyanosis, Maternal diabetes, Hypoxemia |
ORPHA:860 |
Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... |
OMIM:137920 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Acrocyanosis, Failure to thrive, Impaired glucose tolerance |
OMIM:614407 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Cyanosis, Polycythemia |
OMIM:250800 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Failure to thrive, Cyanosis, Neonatal death, Death in infancy |
OMIM:265120 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cachexia, Hepatic steatosis, Hepatomegaly |
ORPHA:42 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death |
OMIM:228100 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, ... |
ORPHA:2088 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
Classic Galactosemia |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Hypoglycemia, Cryptorchidism, Jaundice |
ORPHA:79239 |
Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma |
OMIM:613094 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Cog8-Cdg |
|
Hypoglycemia, Failure to thrive, Spontaneous hematomas |
ORPHA:95428 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Sepsis In Premature Infants |
|
Decreased body weight, Hepatomegaly, Petechiae, Leukocytosis, Splenomegaly, Small for gestational... |
ORPHA:90051 |
Eosinophilic Fasciitis |
|
Eosinophilia, Weight loss, Acrocyanosis, Abnormal eosinophil morphology |
ORPHA:3165 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Cyanosis, Hepatomegaly |
ORPHA:159 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Death in childhood, Anemia, Hepatomegaly |
OMIM:246450 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Cryptorchidism, Petechiae, Leukopenia, Hypoglycemia, Hypoplas... |
OMIM:617053 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Hypoglycemia, Diabetes mellitus, Dorsocervical ... |
ORPHA:391408 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures |
OMIM:231530 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Hypogl... |
OMIM:131100 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Hepatomegaly, Peritonitis, Erythema, Purpura, Lymphadenopathy, Acrocyanosis |
ORPHA:343 |
Glutaric Acidemia I |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
OMIM:231670 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Failure to thrive |
OMIM:614739 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycystic ovaries, Hepatocellular c... |
ORPHA:79240 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Retinal dystrophy, Coloboma, Ectopic posterior pituitary, Cryptorchidism |
OMIM:610125 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Cryptorchidism, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Cyanosis |
OMIM:250790 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Cryptorchidism, Prominent superficial veins, Small for gestational age |
OMIM:616817 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Petechiae, Acrocyanosis |
ORPHA:51188 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ... |
OMIM:180860 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus, Cyanosis |
ORPHA:3426 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatocellular carc... |
ORPHA:370 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabet... |
OMIM:600001 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cyanosis |
ORPHA:391428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Death in inf... |
OMIM:201475 |
Afibrinogenemia, Congenital |
|
Bruising susceptibility, Death in childhood, Death in adolescence, Neonatal death, Death in infan... |
OMIM:202400 |
Autosomal Dominant Keratitis |
|
Coloboma, Aniridia, Hypoplasia of the fovea, Macular hypoplasia |
ORPHA:2334 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia |
OMIM:618253 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Severe failure to thrive, Cyanosis |
ORPHA:3304 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Portal ... |
OMIM:619991 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia |
OMIM:212138 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Cyanosis, Hypoxemia |
ORPHA:464453 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Hypoglycemia, Decreased testicular size, Anterior pit... |
ORPHA:453533 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:606407 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Coloboma |
OMIM:615249 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis |
ORPHA:348 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hypoglycemia, Adrenal hyperplasia, Jaundice, Macroorchidism |
ORPHA:90790 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... |
ORPHA:199299 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Hypoglyc... |
OMIM:232220 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoglycemia, Jaundice |
OMIM:608779 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Cryptorchidism, Small for gestational age |
ORPHA:397590 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly |
OMIM:255120 |
Marcus-Gunn Syndrome |
|
Morning glory anomaly, Abnormal fifth cranial nerve morphology, Coloboma |
ORPHA:91412 |
Primary Lateral Sclerosis |
|
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology |
ORPHA:35689 |
Fucosidosis |
|
Failure to thrive, Vascular skin abnormality, Hepatomegaly, Abnormality of the gallbladder, Acroc... |
ORPHA:349 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Cyanosis, Mediastinal lymphadenopathy, Hypoxemia |
ORPHA:2302 |
Shigellosis |
|
Splenic abscess, Urticaria, Leukocytosis, Peritonitis, Cholestasis, Hypoglycemia, Purpura, Microa... |
ORPHA:810 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Cryptorchidism, Lymphopenia |
OMIM:617575 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Cryptorchidism, Large for gestational age |
OMIM:619075 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Cyanosis |
ORPHA:444013 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Hepatic steatosis |
ORPHA:52430 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:618120 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hypoglycemia, Thrombocytosis, Weight loss, Hyperglycemia |
ORPHA:134 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:2257 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Obesity |
OMIM:600955 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia |
OMIM:618838 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Cholestasis, Small for gestational age |
OMIM:609015 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Cryptorchidism, Severe B lymphocytopenia, B lymp... |
ORPHA:83617 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis, Hepatomegaly, Small for gestational age |
ORPHA:555874 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Failure to thrive, Cyanosis, Neonatal death, Death in infancy, Hypoxemia |
OMIM:610921 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Cyanosis, Lymphadenopathy, Hypoxemia |
ORPHA:79126 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Leukopenia, Acute pancreatitis, No... |
ORPHA:20 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Coloboma |
OMIM:612379 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Cholangitis |
OMIM:124000 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Hepatomegaly, Splenomegaly, Erythema, Purpura, Prolonged neonatal jaundice, Thrombocyt... |
OMIM:225750 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cyanosis |
OMIM:261740 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Cyanotic episode |
ORPHA:284417 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Polyc... |
ORPHA:88673 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Timothy Syndrome |
|
Hypoglycemia |
OMIM:601005 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Myasthenia Gravis |
|
Glycosuria, Hemolytic anemia, Hepatitis, Abnormality of the thymus, Pure red cell aplasia, Acrocy... |
ORPHA:589 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Coloboma |
ORPHA:370959 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... |
OMIM:608836 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypoglycemia, Bile duct proliferation, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618329 |
Glucocorticoid Deficiency 2 |
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Recurrent hypoglycemia |
OMIM:607398 |
Sheehan Syndrome |
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Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:91355 |
Coach Syndrome 1 |
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Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Optic disc pa... |
OMIM:216360 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormal cerebellum morphology, Abnormal upper motor neuron morphology |
OMIM:601162 |
Poems Syndrome |
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Polycythemia, Increased circulating prolactin concentration, Thrombocytosis, Diabetes mellitus, W... |
ORPHA:2905 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Weight loss, Cyanosis |
ORPHA:747 |
Immunodeficiency 59 And Hypoglycemia |
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Hypoglycemia, Decreased proportion of class-switched memory B cells, Hepatomegaly, Prolonged neon... |
OMIM:233600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Small for gestational age, Hypoketotic hypoglycemia, Overweight, Obesity, Jaundice |
ORPHA:26793 |
Glycogen Storage Disease Ia |
|
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Fasting hypoglycemia |
OMIM:232200 |
Silver-Russell Syndrome |
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Cachexia, Decreased testicular size, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism, ... |
ORPHA:813 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Failure to thrive, Hepatomegaly, Splenomegaly, Cyanosis, Hypoglycemia, Death in infancy |
OMIM:252010 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Portal hypertensi... |
OMIM:263200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Coloboma, Retinal... |
ORPHA:85167 |
Mitochondrial Phosphate Carrier Deficiency |
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Cyanosis |
OMIM:610773 |
Restrictive Dermopathy 2 |
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Cyanosis |
OMIM:619793 |
Immunodeficiency, Common Variable, 10 |
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Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
D-Glyceric Aciduria |
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Hypoglycemia, Failure to thrive |
OMIM:220120 |
Hereditary Bullous Dystrophy, Macular Type |
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Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia, Hepatic steatosis |
ORPHA:99901 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Abnormality of retinal pigmentation, Retinal degeneration, Macular ... |
ORPHA:48818 |
Pulmonary Capillary Hemangiomatosis |
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Hypoxemia, Cyanosis, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
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Hypoglycemia |
OMIM:616355 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis |
ORPHA:26791 |
Duodenal Atresia |
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Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Pulmonary Arteriovenous Malformation |
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Cyanosis, Iron deficiency anemia, Hypoxemia, Telangiectasia, Liver abscess |
ORPHA:2038 |
Familial Glucocorticoid Deficiency |
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Failure to thrive, Ketotic hypoglycemia, Leydig cell neoplasia, Testicular adrenal rest tumor, We... |
ORPHA:361 |
Mitochondrial Trifunctional Protein Deficiency |
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Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosis, Failure to ... |
ORPHA:746 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Failure to thrive, Hepatomegaly, Pancreatitis, Abnormal myeloid leukocyte morphology, Bruising su... |
ORPHA:79259 |
Tyrosinemia, Type I |
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Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hypoglycemia,... |
OMIM:276700 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Neonatal hypoglycemia, Slender build |
OMIM:617600 |
Tetrasomy 5P |
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Failure to thrive, Cyanosis |
ORPHA:3309 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Failure to thrive, Death in infancy |
OMIM:610768 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Neonatal hypoglycemia, Cryptorchidism, Large for gestational age |
ORPHA:457485 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Failure to thrive, Decreased response to growth hormone stimulation test, Severe B lymphocytopeni... |
ORPHA:293978 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Deeah Syndrome |
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Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Decreased response to gro... |
OMIM:619004 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia, Hepatitis, Int... |
OMIM:614921 |
Isolated Complex I Deficiency |
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Hypoglycemia, Failure to thrive, Hepatomegaly, Diabetes mellitus |
ORPHA:2609 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly |
ORPHA:228305 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Decreased response to growth hormone stimulation tes... |
ORPHA:226307 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hepatomegaly, Cirrhosis, Glycosuria, Hypoglycemia, Hepatic steatosis, Jaundice |
OMIM:229600 |
Familial Multiple Lipomatosis |
|
Coloboma, Chorioretinitis |
ORPHA:199276 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Insulin resistance, Diabetic ket... |
ORPHA:769 |
3-Methylglutaconic Aciduria Type 7 |
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Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Neonatal hypoglycemia... |
ORPHA:445038 |
Histiocytoid Cardiomyopathy |
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Failure to thrive, Hepatomegaly, Cyanosis, Hypoglycemia, Polycystic ovaries |
ORPHA:137675 |
Acquired Purpura Fulminans |
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Macular purpura, Thrombocytopenia, Acrocyanosis |
ORPHA:49566 |
Sotos Syndrome |
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Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Increased body weight, C... |
OMIM:117550 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
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Annular pancreas |
OMIM:167750 |
Glycogen Storage Disease Ic |
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Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Spider hemangioma, ... |
OMIM:232240 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Hypoglycemia, Failure to thrive, Neutropenia |
OMIM:618005 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
Complete Atrioventricular Septal Defect |
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Failure to thrive, Cyanosis, Hepatomegaly |
ORPHA:1329 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Subcutaneous hemorrhage, Cachexia, Cutis marmorata, Hypoglycemia, Telangiectasia |
ORPHA:109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Obesity |
OMIM:301066 |
Addison Disease |
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Hypoparathyroidism, Thymoma, Failure to thrive, Normocytic anemia, Hypoglycemia, Type I diabetes ... |
ORPHA:85138 |
Dilated Cardiomyopathy With Ataxia |
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Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Neonatal hypoglycemia, Normochro... |
ORPHA:66634 |
Kallmann Syndrome-Heart Disease Syndrome |
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Bilateral cryptorchidism, Decreased testicular size, Cyanosis |
ORPHA:2326 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:210210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Death in infancy |
OMIM:619355 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
Cholera |
|
Hypoglycemia, Palmoplantar cutis laxa, Miscarriage |
ORPHA:173 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Failure to thrive, Adrenocorticotropic hormone excess, Congenital adrenal hyperplasia, Decreased ... |
ORPHA:90791 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Eosinophilia, Purpura, Weight loss, Acrocyanosis |
ORPHA:183 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... |
ORPHA:508 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Meckel Syndrome 14 |
|
Cyanosis, Hepatic fibrosis |
OMIM:619879 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Neutropenia, Neonatal hypoglycemia, Thrombocytopenia, Hepatic steatosis |
OMIM:616271 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Failure to thrive, Hypoglycemia, Neutropenia, Thrombocytopenia, Jaundice |
ORPHA:79282 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Hepatomegaly, Testicular microlithiasis, Cyanosis, Hypoxemia, We... |
ORPHA:60025 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Telangiectasia of the skin, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Retinal atrophy, Cryptorchid... |
OMIM:236670 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Failure to thrive, Cyanosis |
OMIM:610913 |
Leigh Syndrome |
|
Hypoglycemia, Failure to thrive, Anemia, Neutropenia |
ORPHA:506 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Failure to thrive, Cryptorchidism, Cyanosis |
ORPHA:2886 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Holoprosencephaly |
|
Panhypopituitarism, Abnormality of the spleen, Anterior hypopituitarism, Hypoglycemia, Diabetes m... |
ORPHA:2162 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Small for gestational age, Cirrhosis, Cholestasis, Hypoglycemia... |
OMIM:613658 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia |
OMIM:616749 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive, Hepatomegaly, Hyperglycemia |
ORPHA:3008 |
Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hepatomegaly, Jaundice |
ORPHA:469 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Insulin resistance, Sma... |
ORPHA:96182 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Cryptorchidism |
ORPHA:565624 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Hydrocephalus, Chiari malformation |
OMIM:618162 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Hypoglycemia, Pancreatic islet-... |
ORPHA:373 |
Marburg Hemorrhagic Fever |
|
Petechiae, Pancreatitis, Lymphopenia, Orchitis, Bruising susceptibility, Leukopenia, Abnormal lym... |
ORPHA:99826 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Cy... |
ORPHA:293987 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Acute Adrenal Insufficiency |
|
Hypoglycemia, Failure to thrive, Weight loss, Normocytic anemia |
ORPHA:95409 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis, Palmar t... |
OMIM:600376 |
Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Hepatomegaly, Biliary atresia, Cyanosis, Abdominal situs inversus, Polysplenia... |
OMIM:306955 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly |
ORPHA:17 |
Esophageal Atresia |
|
Cyanosis, Maternal diabetes, Failure to thrive in infancy, Small for gestational age |
ORPHA:1199 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia, Telangiectasia of the skin, Miscarriage, Hepatic arteriovenous malformation, Poly... |
OMIM:187300 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Alg12-Cdg |
|
Failure to thrive, B lymphocytopenia, Recurrent hypoglycemia, Cryptorchidism, Thrombocytopenia |
ORPHA:79324 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hypocapnia, Bruising susceptibility, Hypoglycemia, Hepatitis, Hepatic pe... |
ORPHA:90062 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatic calcification, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:157 |
Arnold-Chiari Malformation Type Ii |
|
Cyanosis |
ORPHA:1136 |
Menkes Disease |
|
Hypoglycemia, Spontaneous hematomas, Prolonged neonatal jaundice |
ORPHA:565 |
Atrial Septal Defect, Ostium Primum Type |
|
Failure to thrive, Cyanosis |
ORPHA:99106 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Retinal degeneration, Coloboma, Optic atrophy, Retinal atrophy, Retinal... |
OMIM:253280 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Hypoglycemia, Supernumerary nipple, Angiokeratoma |
OMIM:153480 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic calcification, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly |
ORPHA:228308 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Adrenocorticotropic hormone excess, Abnormality of the Leydig cells, Elevated ... |
ORPHA:168558 |
Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Aganglionic megacolon, Chori... |
ORPHA:959 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia |
OMIM:616878 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Adrenocorticotropic hormone excess, Abnormality of the Leydig cells, Elevated ... |
ORPHA:289548 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Atrioventricular Septal Defect 3 |
|
Cyanosis |
OMIM:600309 |
Meckel Syndrome |
|
Hydrocephalus, Cryptorchidism, Pancreatic fibrosis, Accessory spleen, Anencephaly, Congenital hep... |
ORPHA:564 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |