Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age, Diabetes mellitus, Pancreatic aplasia, Exocrine... |
OMIM:615935 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... |
OMIM:260370 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Cerebellar hypoplasia |
ORPHA:65288 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Death in infancy, Reduced subcutaneous adipose tissue, Failure to ... |
OMIM:609069 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased body weight, Abnormality of body weight |
ORPHA:314811 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Hypoglycemia |
OMIM:262400 |
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 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly |
OMIM:232700 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Hypo... |
ORPHA:556955 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Enlarged tonsils, Large for gestational age, N... |
ORPHA:293964 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis |
ORPHA:446 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Type I diabetes mellitus, Pancreatic aplasia, Exoc... |
OMIM:618500 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Failure to thri... |
ORPHA:2470 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Coloboma |
OMIM:602499 |
17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism |
ORPHA:261265 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:171706 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Hypoxemia, Failure to thrive, Diabetes mellitus, Hepatomegaly... |
ORPHA:456312 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Anemia, Hypoglycemia |
OMIM:610090 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Hyperin... |
ORPHA:276580 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hyperinsulinemic hypoglyce... |
ORPHA:276575 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglycemia, Diabetes mellitus... |
ORPHA:181393 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Coloboma |
ORPHA:324416 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... |
ORPHA:2255 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... |
OMIM:617872 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Prolonged neonat... |
OMIM:231100 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Portal fibrosis, Increased hepatic glycoge... |
ORPHA:369 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Impaired gluconeogenesis, Increased hepatic echogenicity, Hepatic steatosis, Hypoglycem... |
OMIM:261680 |
Coats Disease |
|
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology |
ORPHA:190 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia |
OMIM:616113 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Failure to thrive |
ORPHA:91130 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism |
ORPHA:2022 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Hepatomegal... |
OMIM:613027 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:619048 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Hypoglycemia |
ORPHA:67048 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Decreased body weight, Neonatal hypoglycemia |
ORPHA:231140 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Jaundice, Cholestasis, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Large for gestational age, Hyperinsulinemic hypoglycemia,... |
ORPHA:79644 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Obesity, Decreased response to growth hormone stimulatio... |
OMIM:300148 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Death in childhood, Hepatomegaly |
OMIM:246900 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Death in infancy, Jaundice, Failure to thrive, Hypoglycemia |
OMIM:617049 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Ketotic hypoglycemia |
ORPHA:26792 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Hypoglycemia, Pancreatitis, Death in infancy |
OMIM:619386 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Jaundice, Abnor... |
ORPHA:93111 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Premature skin wrinkling |
OMIM:617950 |
Joubert Syndrome 22 |
|
Retinal dysplasia, Coloboma |
OMIM:615665 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Coloboma |
OMIM:614465 |
Cataract 21, Multiple Types |
|
Macular hypoplasia, Iris coloboma, Retinal detachment |
OMIM:610202 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Cryptorchidism |
OMIM:618958 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Hyperinsuli... |
ORPHA:97279 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Neonatal hypoglycemia, Failure to thrive, Macrocytic anemia, Splenomegaly |
OMIM:619046 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death |
OMIM:613730 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Coloboma, Portal fibrosis, Chorioretinal coloboma, Congenital hepatic fibrosis |
OMIM:619111 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Abnormal upper motor neuron morphology, Spinocerebellar atrophy |
OMIM:215470 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Hepatomegaly, Hypoglycemia |
OMIM:232400 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem... |
ORPHA:263455 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Hypoglycemia |
OMIM:240200 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, C... |
OMIM:611890 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia, Cyanosis |
ORPHA:621 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Failure to thrive, Hypoxemia, Mediastinal lymphadenopathy |
ORPHA:91359 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Type II diabete... |
ORPHA:254516 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Hepatomegaly... |
ORPHA:811 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Splenomegaly, Hepatomegaly |
ORPHA:2414 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Failure to thrive, Hypoglycemia, Neonatal death, Death in childhood |
OMIM:245400 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism |
ORPHA:95496 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retroperitoneal fibrosis, Facial telangiectasia, Decreased response to gro... |
OMIM:602782 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Failure to thrive |
OMIM:263000 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia |
ORPHA:163693 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Hypoglycemia, Cryptorchidism |
OMIM:307030 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Iris coloboma, Chorioretinal coloboma, Retinal detachment |
OMIM:212550 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Failure to thrive, Hypoglycemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancrea... |
OMIM:251000 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia |
OMIM:616483 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:2394 |
Abruzzo-Erickson Syndrome |
|
Iris coloboma, Coloboma, Chorioretinal coloboma, Cryptorchidism |
ORPHA:921 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Hypoglycemia |
ORPHA:289504 |
Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:94086 |
Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Neonata... |
OMIM:619418 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... |
OMIM:251880 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Bruising ... |
ORPHA:335 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Propionic Acidemia |
|
Anemia, Pancytopenia, Failure to thrive, Hypoglycemia, Hepatomegaly, Thrombocytopenia, Neutropeni... |
OMIM:606054 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Death in childhood, Coloboma |
OMIM:613153 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia |
OMIM:615113 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia |
OMIM:201910 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonatal hypoglycemia |
ORPHA:199296 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Failure to thrive, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia |
OMIM:615160 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Severe failure to thrive, Cholestasis, Postprandial hyperglyc... |
OMIM:246200 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Weight loss, Neutrophilia, Hypoxemia, Leukocytosis |
ORPHA:1302 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Fastin... |
ORPHA:2298 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy, Iris coloboma |
OMIM:616722 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar... |
ORPHA:95619 |
Laron Syndrome |
|
Prematurely aged appearance, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... |
OMIM:600501 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Neonatal death, Hypoglycemia, Death in infancy |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Neonatal death, Hypoglycemia, Death in infancy |
OMIM:618839 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Abnormal erythrocyte enzyme level, Portal fibrosis, Hepatic ... |
ORPHA:264580 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia,... |
ORPHA:2126 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Thrombocytopenia, Death in chil... |
OMIM:611126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Neonatal hypoglycemia, Failure to thrive, Hypoglycem... |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Failure to thrive, Hypoglycemia |
OMIM:614702 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Acrocyanosis, Glucose intolerance, Impaired glucose tolerance |
OMIM:614407 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive, Hepatomegaly |
ORPHA:860 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Decreased response to growth hormone stimulation test, Coloboma, Optic atroph... |
ORPHA:324737 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Neonatal death, Hepatic peri... |
OMIM:231680 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Impaired glucose tolerance, Glycosuria, Biliary tract abnormality, Maturit... |
OMIM:137920 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Failure to thrive, Neonatal death, Death in infancy |
OMIM:265120 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hypoglycemia, Cryptorchidism |
OMIM:614736 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hypoglycemia, Cachexia, Hepatomegaly |
ORPHA:42 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Hypoglycemia, Acute hepatic steatosis |
OMIM:210200 |
Carnitine Deficiency, Systemic Primary |
|
Microvesicular hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine level in liver, F... |
OMIM:212140 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Large for gestational age, Diabetes mellitus, Hypoglycemia, Hepatomegaly |
OMIM:616026 |
Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma |
OMIM:613094 |
Sepsis In Premature Infants |
|
Cyanosis, Anemia, Decreased body weight, Petechiae, Small for gestational age, Jaundice, Purpura,... |
ORPHA:90051 |
Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Spontaneous hematomas |
ORPHA:95428 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... |
OMIM:609812 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:159 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Weight loss, Eosinophilia |
ORPHA:3165 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Neonatal death, Hypoglycemia |
OMIM:228100 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Death in childhood, Hepatomegaly, Hypoglycemia |
OMIM:246450 |
Classic Galactosemia |
|
Jaundice, Abnormal erythrocyte enzyme level, Hypoglycemia, Hepatomegaly, Cryptorchidism |
ORPHA:79239 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity |
ORPHA:73272 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Petechiae, Decreased testicular size, Lymphopenia, Hyp... |
OMIM:617053 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes mellitus, Hypog... |
ORPHA:391408 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia |
OMIM:614739 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Purpura, Acrocyanosis, Lymphadenopathy, Hepatomegaly, Erythema, Peritonitis, Urticaria |
ORPHA:343 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Pituitary a... |
OMIM:131100 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:600649 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Ketotic hypoglycemia, Hepatocellular carcinoma, Polycystic o... |
ORPHA:79240 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Ectopic posterior pituitary, Cryptorchidism |
OMIM:610125 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Large for gestational age, Hypoglycemia, Cryptorchidism |
OMIM:616638 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatic necrosis, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Microvesicular hepatic steatosis, Death in infancy, Jaundice, Failure to thrive, Hypog... |
OMIM:617156 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... |
ORPHA:35689 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Recurrent hypoglycemia, Prominent superficial veins, Cryptorchidism |
OMIM:616817 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatic steatosis, Hypoglycemia, Hepatomegaly |
OMIM:201450 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Testicular semi... |
OMIM:180860 |
Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypoparathyroidism, Cyanosis |
ORPHA:3426 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Decreased... |
OMIM:262600 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Posterior pituitary hypoplasia, Neonatal hypoglycemia, Ectopic posterior pituitary, Decreased thy... |
OMIM:613986 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Neutropenia |
OMIM:618253 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Jaundice, Failure to thrive, Hypoglycemia, Hepatomegaly, Splenomegaly, Excessiv... |
OMIM:608779 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Decreased testicular size, Type II diabetes mellitus, Hypoglycemia... |
ORPHA:453533 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia |
ORPHA:391428 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Failure to thrive, Diabet... |
OMIM:600001 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... |
ORPHA:370 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplasia of the fovea, Coloboma, Aniridia |
ORPHA:2334 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Death in infancy, Hepatocellular necrosis, Nonketotic hypoglycemia, Hepatic ... |
OMIM:201475 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Severe failure to thrive, Cryptorchidism |
ORPHA:3304 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia |
OMIM:606407 |
Acquired Methemoglobinemia |
|
Cyanosis, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia,... |
ORPHA:71212 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Adrenal hyperplasia, Failure to thrive, Hypoglycemia |
ORPHA:90790 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Hepatomegaly |
OMIM:212138 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly, Thrombocytop... |
OMIM:619991 |
Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Coloboma |
OMIM:615249 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cirrhosis, Microvesicular hepatic steatosis, Hepatocellular necrosis, Jaundice, Hepatocellular ca... |
OMIM:256810 |
Late-Onset Isolated Acth Deficiency |
|
Weight loss, Hepatitis, Normocytic anemia, Pituitary adenoma, Type I diabetes mellitus, Failure t... |
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, Hepatocellular carcinoma, Hypoglycemia, Pancreatic fibrosis, Hepatomegaly, Neutrope... |
OMIM:232220 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Failure to thrive |
ORPHA:444013 |
Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Mediastinal lymphadenopathy |
ORPHA:2302 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Fasting hypoglycemia |
ORPHA:348 |
Marcus-Gunn Syndrome |
|
Morning glory anomaly, Coloboma, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Fucosidosis |
|
Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Hepatomegaly, Vascular skin abno... |
ORPHA:349 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:618120 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Peritonitis, Purpura, Hypoglycemia, Cholestasis, Leukocytosis,... |
ORPHA:810 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Recurrent hypoglycemia |
OMIM:202200 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypoglycemia, Cryptorchidism |
ORPHA:397590 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Hypoglycemia, Thrombocytosis, Leukocytosis, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Failure to thrive, Hypoxemia |
ORPHA:2257 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Cryptorchidism |
OMIM:619075 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity, Reactive hypoglycemia |
OMIM:600955 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hypoglycemia |
OMIM:618838 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Neonatal death, Polys... |
OMIM:208540 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Failure to thrive, Hypoketotic hypoglycemia, Cholestasis |
OMIM:609015 |
Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Type II... |
ORPHA:88673 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Acute pancreatitis, Thrombocy... |
ORPHA:20 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Death in infancy, Hypoxemia, Failure to thrive, Neonatal death |
OMIM:610921 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Cyanosis, Hypoxemia, Hepatomegaly |
ORPHA:555874 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
Acute Interstitial Pneumonia |
|
Cyanosis, Lymphadenopathy, Reduced hematocrit, Hypoxemia |
ORPHA:79126 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy |
OMIM:612379 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Failure to thrive, Severe B lympho... |
ORPHA:83617 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Coloboma, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Aicardi-Goutieres Syndrome 1 |
|
Prolonged neonatal jaundice, Petechiae, Purpura, Acrocyanosis, Hepatomegaly, Erythema, Thrombocyt... |
OMIM:225750 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Lymphopenia, Cryptorchidism |
OMIM:617575 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic steatosis |
OMIM:618329 |
Timothy Syndrome |
|
Hypoglycemia |
OMIM:601005 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly |
OMIM:255120 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Myasthenia Gravis |
|
Hemolytic anemia, Hepatitis, Glycosuria, Acrocyanosis, Abnormality of the thymus, Pure red cell a... |
ORPHA:589 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Hypoglycemia |
OMIM:617710 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Nonketotic hypoglycemia, Hypoglycemia, Hepatic calcification, Hepatomegaly, Lip... |
OMIM:608836 |
Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Retinal degeneration, Macular degeneration, Abnormality of retinal p... |
ORPHA:48818 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Death in infancy, Failure to thrive, Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:252010 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Overweight, Hepatomegaly, Obesity |
ORPHA:26793 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Weight loss |
ORPHA:747 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Coloboma, Intrahepatic bile duct dilatation, Hepatomegaly, Portal hy... |
OMIM:216360 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Pancreatitis |
OMIM:232200 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Panhypopituitarism, Reduced circulatin... |
ORPHA:91355 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Silver-Russell Syndrome |
|
Decreased testicular size, Cachexia, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism, ... |
ORPHA:813 |
Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Hepatocellular carcinoma, Failure to thrive, Hypoglycemia, Hepatomegaly, Pancr... |
OMIM:276700 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Weight loss, Acrocyanosis, Polycythemia, Diabetes ... |
ORPHA:2905 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit... |
ORPHA:85167 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Acrocyanosis, Cryptorchidism |
ORPHA:1867 |
Immunodeficiency 59 And Hypoglycemia |
|
Prolonged neonatal jaundice, Decreased proportion of class-switched memory B cells, Hepatomegaly,... |
OMIM:233600 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia |
OMIM:220120 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hepatic periportal necrosis, Hepatomegaly, Hypoglycemia |
ORPHA:26791 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Failure to... |
OMIM:124000 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Liver abscess, Hypoxemia, Iron deficiency anemia |
ORPHA:2038 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hepatic steatosis, Failure to thrive, Thrombocytopenia, Nonketotic hypoglycemia |
ORPHA:99901 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Weight loss, Testicular adrenal rest tumor, Ketotic hypoglycemia, Failure ... |
ORPHA:361 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Hypoparathyroidism, Cholestasis, Failure to ... |
ORPHA:746 |
Tetrasomy 5P |
|
Cyanosis, Failure to thrive |
ORPHA:3309 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Hepatocellular carcinoma, Abnormal myeloid leukocyte morphology, Bru... |
ORPHA:79259 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia |
OMIM:616355 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Lymphadenopathy, Hypoxemia, Mediastinal lymphadenopathy |
ORPHA:199241 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:457485 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Death in infancy |
OMIM:610768 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Death in infancy, Jaundice, Neonatal hypoglycemia, Failure to thrive, Neutropenia |
OMIM:617248 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Acquired Purpura Fulminans |
|
Macular purpura, Thrombocytopenia, Acrocyanosis |
ORPHA:49566 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Diabetes mellitus, Hepatomegaly |
ORPHA:2609 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Failure to thrive, Polycystic ovaries, Hypoglycemia, Hepatomegaly |
ORPHA:137675 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:228305 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatitis, Intrahepatic cholestasis, Hepatic steatosis, Increased hepatic glycogen content, Hypog... |
OMIM:614921 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Premature graying of hair, Impaired glucose tolerance, Diabetic ketoacidosi... |
ORPHA:769 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Hepatic steatosis, Infection associated neutropenia, Bone marrow hypocellu... |
ORPHA:445038 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Glycosuria, Jaundice, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:229600 |
Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased body weight, Decreased response to growth hormone stimul... |
OMIM:619004 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Cryptorchidism, Prolonged neonatal jaundice, Glucose intolerance, Increase... |
OMIM:117550 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypopituita... |
ORPHA:226307 |
Familial Multiple Lipomatosis |
|
Chorioretinitis, Coloboma |
ORPHA:199276 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Hypoglycemia, Neutropenia |
OMIM:618005 |
Perlman Syndrome |
|
Cryptorchidism, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia |
OMIM:610910 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Failure to thrive, Hepatomegaly |
ORPHA:1329 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, ... |
OMIM:232240 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Bilateral cryptorchidism, Decreased testicular size |
ORPHA:2326 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Death in infancy |
OMIM:619355 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Subcutaneous hemorrhage, Cachexia, Cutis marmorata, Hypoglycemia |
ORPHA:109 |
Addison Disease |
|
Thymoma, Primary testicular failure, Weight loss, Normocytic anemia, Type I diabetes mellitus, Th... |
ORPHA:85138 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Hypoxemia |
ORPHA:439 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Congenital ... |
ORPHA:90791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatosplenomegaly, Cholecystitis, Hypoglycemia, Hepatomegaly, Obesity, Cholelithiasis |
OMIM:301066 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:210210 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia |
OMIM:616749 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Bilateral cryptorchidism, Neona... |
ORPHA:66634 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Failure to thrive, Death in childhood, Death in infancy |
OMIM:618426 |
Cholera |
|
Hypoglycemia, Palmoplantar cutis laxa, Miscarriage |
ORPHA:173 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Purpura, Acrocyanosis, Cutis marmorata, Eosinophilia, Urticaria |
ORPHA:183 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Anemia, Small for gestational age, Pancytopenia, Hepatic steatosis, Failure to thrive,... |
OMIM:613658 |
Meckel Syndrome 14 |
|
Cyanosis, Hepatic fibrosis |
OMIM:619879 |
Leprechaunism |
|
Hyperinsulinemia, Decreased body weight, Reduced subcutaneous adipose tissue, Insulin resistance,... |
ORPHA:508 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Neonatal hypoglycemia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Tarp Syndrome |
|
Cyanosis, Failure to thrive, Cryptorchidism, Extramedullary hematopoiesis |
ORPHA:2886 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Failure to thrive, Hypoxemia |
OMIM:610913 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Cryptorchidi... |
OMIM:236670 |
Leigh Syndrome |
|
Failure to thrive, Anemia, Neutropenia, Hypoglycemia |
ORPHA:506 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Failure to thrive, Hypoglycemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Telangiectasia of the skin |
OMIM:616007 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Testicular microlithiasis, Weight loss, Hypoxemia, Oxygen desaturation on exertion, Hep... |
ORPHA:60025 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Holoprosencephaly |
|
Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus, Hypoglycemia, Cryptorchidism, Ab... |
ORPHA:2162 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Autoimmu... |
ORPHA:293978 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:3008 |
Hereditary Fructose Intolerance |
|
Jaundice, Reactive hypoglycemia, Hepatomegaly |
ORPHA:469 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Asplenia, Biliary atresia, Polysplenia, Failure to thrive, Hepatomegaly, Abdominal situ... |
OMIM:306955 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Cryptorchidism |
ORPHA:565624 |
Beckwith-Wiedemann Syndrome |
|
Large for gestational age, Polycythemia, Hepatoblastoma, Neonatal hypoglycemia, Hypoglycemia, Pse... |
ORPHA:116 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Insulin resista... |
ORPHA:96182 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Polysplenia, Supernumerary nipple, Hepatoblastoma, Hypoglycemia, Cryptorchidism... |
ORPHA:373 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Petechiae, Jaundice, Reticulocytosis, Lymphopenia, Bruising susceptibility, Lymphaden... |
ORPHA:99826 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemic seizures, Hypoglycemia |
ORPHA:480864 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Hypoglycemia, Weight loss, Normocytic anemia |
ORPHA:95409 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:17 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon |
OMIM:601374 |
Esophageal Atresia |
|
Small for gestational age, Cyanosis, Maternal diabetes, Failure to thrive in infancy |
ORPHA:1199 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Palate telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Facial te... |
OMIM:600376 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Neonatal hypoglycemia |
OMIM:261740 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased respo... |
ORPHA:293987 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Palate telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Nail bed ... |
OMIM:187300 |
Alg12-Cdg |
|
B lymphocytopenia, Failure to thrive, Recurrent hypoglycemia, Cryptorchidism, Thrombocytopenia |
ORPHA:79324 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased t... |
ORPHA:90695 |
Kabuki Syndrome 2 |
|
Decreased body weight, Neonatal hypoglycemia |
OMIM:300867 |
Arnold-Chiari Malformation Type Ii |
|
Cyanosis |
ORPHA:1136 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic calcification, Hepatomegaly |
ORPHA:157 |
Acute Liver Failure |
|
Hypocapnia, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Bruising susceptibili... |
ORPHA:90062 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia |
OMIM:616878 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Failure to thrive |
ORPHA:99106 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Menkes Disease |
|
Prolonged neonatal jaundice, Spontaneous hematomas, Hypoglycemia |
ORPHA:565 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Failure to ... |
ORPHA:168558 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Hepatic calcification, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal... |
OMIM:253280 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased testicular size, Neonatal hypoglycemia, Failure to ... |
ORPHA:289548 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Neonatal hypoglycemia |
ORPHA:572798 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Aganglionic megacolon, Optic disc hypoplasia, Iris coloboma, Chorioretinal coloboma, Op... |
ORPHA:959 |
Atrioventricular septal defect 3 |
|
Cyanosis |
OMIM:600309 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Death in infancy, Small for gestational age, Failure to thrive,... |
OMIM:220111 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Encephalocele, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, C... |
ORPHA:564 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Familial Dysautonomia |
|
Acrocyanosis, Abnormality of the peritoneum |
ORPHA:1764 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Neonatal hypoglycemia, Hepatoblastoma, Hepatomegaly, Cryptorchidism |
OMIM:130650 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Acrocyanosis, Supernumerary nipple, Cryptorchidism |
ORPHA:2896 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia, Adrenal hyperplasia |
ORPHA:786 |
Postinfectious Vasculitis |
|
Weight loss, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Viral hepat... |
ORPHA:48435 |
Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Acrocyanosis, Cutis marmorata, Hepatosplenomegaly, Diabetes mellitus,... |
ORPHA:51 |
Congenital Tracheomalacia |
|
Cyanosis, Failure to thrive |
ORPHA:95430 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Coloboma, Optic nerve aplasia, Optic nerve hypoplasia, Cryptorchidism |
OMIM:206900 |
Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Retinal coloboma |
OMIM:617107 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased t... |
ORPHA:95494 |