Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... |
OMIM:615935 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Pancreati... |
OMIM:609069 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia |
OMIM:613703 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
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, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Hypo... |
ORPHA:556955 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun... |
ORPHA:293964 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
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 |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Type I diabetes... |
OMIM:618500 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Annular pancreas,... |
ORPHA:2470 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia, Anemia |
OMIM:610090 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Bilia... |
ORPHA:2255 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... |
ORPHA:276575 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia |
ORPHA:324416 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Fasting hypoglycemia |
ORPHA:171706 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepa... |
ORPHA:369 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impai... |
OMIM:261680 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:617872 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia |
OMIM:619048 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Decreased response to growth hormone stimulation test, O... |
OMIM:300148 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight |
ORPHA:231140 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
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 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Death in childhood |
OMIM:246900 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Hypoglycemia, Jaundice, Cirrhosis, Failure to thrive |
OMIM:617049 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hepatic steatosis, Pancreatitis, Hypoglycemia |
OMIM:619386 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Failure to thrive, Hypoglycemia |
OMIM:617950 |
Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia |
OMIM:615665 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Joubert Syndrome 16 |
|
Coloboma, Retinal dystrophy |
OMIM:614465 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia, Iris coloboma |
OMIM:610202 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy |
OMIM:614464 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Cryptorchidism |
OMIM:618958 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Macrocytic anemia, Splenomegaly, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Fail... |
ORPHA:79237 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, ... |
OMIM:610199 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy |
OMIM:215470 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Coloboma, Portal fibrosis, Hepatic fibrosis, Chorioretinal coloboma |
OMIM:619111 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death |
OMIM:613730 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hypoglycemia |
OMIM:232400 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Pancreatic hypoplasia, Hyp... |
ORPHA:99885 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Hypoglycemia |
OMIM:240200 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... |
ORPHA:263455 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Cyanosis, Small for gestational age |
ORPHA:621 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Cyanosis |
ORPHA:2414 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Mediastinal lymphadenopathy, Failure to thrive, Cyanosis |
ORPHA:91359 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:254516 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology, N... |
OMIM:611890 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Hypoglycemia, Death in childhood, Neonatal death, Failure to thrive |
OMIM:245400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Failure to thrive |
ORPHA:95496 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Cyanosis |
OMIM:263000 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia |
ORPHA:163693 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures |
OMIM:620211 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Hypoglycemia |
ORPHA:289504 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:2394 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia... |
OMIM:619418 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocyto... |
OMIM:251000 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia |
OMIM:616483 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Jaundice, Micronodular cirrhosis, ... |
OMIM:251880 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Neutropenia, Failure to thrive, Pancr... |
OMIM:606054 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae |
OMIM:602473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Coloboma, Death in childhood |
OMIM:613153 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Bruising susceptibility, Decreased testicula... |
ORPHA:335 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Iris coloboma, Chorioretinal coloboma, Cryptorchidism |
ORPHA:921 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia |
OMIM:615160 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Iris coloboma |
OMIM:616722 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Cyanosis, Leukocytosis, Weight loss, Hypoxemia |
ORPHA:1302 |
Donohue Syndrome |
|
Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia,... |
OMIM:246200 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... |
ORPHA:2298 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hypoglycemia, Anemia |
OMIM:618835 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adeno... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Hypoglycemia, Anemia |
OMIM:618839 |
Laron Syndrome |
|
Truncal obesity, Prematurely aged appearance, Hypoglycemia |
ORPHA:633 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Failure to thrive, Acrocyanosis, Impaired glucose tolerance |
OMIM:614407 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, Death in childhood, Thrombocyto... |
OMIM:611126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Death in adolescence, Death in childho... |
OMIM:619055 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Hypoglycemia |
OMIM:614702 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive |
ORPHA:860 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo... |
ORPHA:324737 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... |
OMIM:231680 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cachexia, Hypoglycemia |
ORPHA:42 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Impaired gluconeogenesis,... |
OMIM:212140 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Failure to thrive, Cyanosis |
OMIM:265120 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Ab... |
ORPHA:95619 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Neutrope... |
ORPHA:90051 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria |
OMIM:616026 |
Classic Galactosemia |
|
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice |
ORPHA:79239 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Fa... |
OMIM:617093 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Cog8-Cdg |
|
Spontaneous hematomas, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anemia, Death in childhood |
OMIM:246450 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Failure to thrive, Hypoglycemia |
OMIM:614736 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased hepatic glycogen content, ... |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia |
OMIM:614739 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycemia, Decreased body... |
ORPHA:391408 |
Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Mirage Syndrome |
|
Hypoglycemia, Cryptorchidism, Thrombocytopenia, Anemia, Leukopenia, Decreased body weight, Hypopl... |
OMIM:617053 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular adenoma, Increased body weight, ... |
ORPHA:79240 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive |
ORPHA:73272 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Coloboma |
OMIM:610125 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia |
OMIM:600649 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Leukocytosis, Cyanosis |
ORPHA:330012 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia |
OMIM:231530 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosi... |
OMIM:617156 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Cyanosis, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Hyperg... |
OMIM:600001 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia |
ORPHA:391428 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Neutropenia |
OMIM:618253 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia |
ORPHA:156 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Prominent superficial veins, Small for gestational age, Recurrent hypoglycemia |
OMIM:616817 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Type I diabetes mellitus, D... |
OMIM:616113 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Periportal fibr... |
OMIM:201475 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Coloboma, Aniridia, Macular hypoplasia |
ORPHA:2334 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Type II diabetes mellitus, Decrease... |
ORPHA:453533 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Jaundice, Excessive wrinkled skin, Fa... |
OMIM:608779 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Hypoglycemia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia |
OMIM:606407 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
OMIM:231670 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... |
OMIM:619991 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cryptorchidism, Cyanosis |
ORPHA:3304 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia |
OMIM:212138 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Retinal degeneration |
OMIM:615249 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Pituitary a... |
ORPHA:199299 |
Asbestos Intoxication |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopituitarism, Reduced circulating prolactin c... |
OMIM:262600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:618120 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Hepatocellular carcin... |
OMIM:232220 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Cyanosis |
ORPHA:444013 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Jaundice,... |
OMIM:256810 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Marcus-Gunn Syndrome |
|
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly |
ORPHA:91412 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Vascular skin abno... |
ORPHA:349 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hypoglycemia, Jaundice, Macroorchidism, Failure to thrive |
ORPHA:90790 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Shigellosis |
|
Failure to thrive in infancy, Hypoglycemia, Peritonitis, Leukocytosis, Cholestasis, Urticaria, Mi... |
ORPHA:810 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:2257 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Death in infancy, Hypoglycemia |
OMIM:620300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:348 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hepatic steatosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia |
ORPHA:134 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia |
OMIM:618838 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Acrocyanosis... |
OMIM:225750 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Large for gestational age |
OMIM:619075 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Failure to thrive, Small for gestational age, Cholestasis, Hypoketotic hypoglycemia |
OMIM:609015 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Small for gestational age, Hypoglycemia |
ORPHA:397590 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid accumula... |
ORPHA:20 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Hypoxemia, Neonatal death, Failure to thrive |
OMIM:610921 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic atrophy, Optic nerve hypoplasia, Coloboma |
ORPHA:370959 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy |
OMIM:612379 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Hepatomegaly, Cyanosis, Small for gestational age |
ORPHA:555874 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... |
ORPHA:83617 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia |
OMIM:618329 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia |
OMIM:255120 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Glycosuria, Acroc... |
ORPHA:589 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Hypoglycemia, Splenomegaly, Failure to thrive |
OMIM:252010 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Macular degeneration, Hepatic ... |
ORPHA:48818 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hypoglycemia, Lipid accumulation in hepa... |
OMIM:608836 |
Reni Syndrome |
|
Cryptorchidism, Lymphopenia, Hypoglycemia |
OMIM:617575 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Failure to thrive, Small for gestational age, Hypoglycemia |
OMIM:607143 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Portal hypertension, Splenomegaly, Coloboma, Hepatic fibrosis, C... |
OMIM:216360 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:747 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity, Hypoketotic hypoglycemia |
ORPHA:26793 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... |
ORPHA:95613 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... |
OMIM:227810 |
Poems Syndrome |
|
Diabetes mellitus, Lymphadenopathy, Weight loss, Thrombocytosis, Acrocyanosis, Polycythemia, Incr... |
ORPHA:2905 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hypoglycemia, Prolonged neon... |
OMIM:233600 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Iron deficiency anemia |
ORPHA:2038 |
Sheehan Syndrome |
|
Hypoglycemia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:91355 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoglycemia |
OMIM:620275 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Insulin resistance, Obesity, Recurrent hy... |
ORPHA:813 |
D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia |
OMIM:220120 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Thrombocytopenia |
ORPHA:99901 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis, Lymphadenopathy |
ORPHA:199241 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Hypoket... |
ORPHA:746 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Chronic neutropenia, Hepatocellular adenoma, Hypog... |
ORPHA:79259 |
Tetrasomy 5P |
|
Failure to thrive, Cyanosis |
ORPHA:3309 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive, Hypoglycemia |
ORPHA:2609 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Failure to thrive, Hypoketotic hypoglycemia |
OMIM:610768 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Neutropenia, Neonatal death, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Weigh... |
ORPHA:361 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Intrahepatic cholestasis, Hepatitis, Chronic hepatitis, Increased hep... |
OMIM:614921 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Polycystic ovaries, Failure to thrive |
ORPHA:137675 |
Deeah Syndrome |
|
Hepatomegaly, Death in infancy, Decreased hemoglobin concentration, Decreased response to growth ... |
OMIM:619004 |
Familial Multiple Lipomatosis |
|
Chorioretinitis, Coloboma |
ORPHA:199276 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia |
ORPHA:228305 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Hepatic steatosis, Ne... |
ORPHA:445038 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... |
ORPHA:769 |
Sotos Syndrome |
|
Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal jaundice, Neonatal... |
OMIM:117550 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Timothy Syndrome |
|
Hypoglycemia |
OMIM:601005 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypoglycemia, Anterior pituitary hypoplasia, Decreased response to g... |
ORPHA:226307 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Hypoglycemia, Neutropenia |
OMIM:618005 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failure to thrive, Hepatic steatosis |
OMIM:229600 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hepatoce... |
OMIM:232240 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Small for gestational age, Hypoglycemia, Chronic pancreatitis |
OMIM:307030 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age |
OMIM:267000 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Failure to thrive, Cyanosis |
ORPHA:1329 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Death in infancy, Hypoglycemia |
OMIM:619355 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia |
OMIM:616749 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:210210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Primary testicular failure, Hypoglycemia, Thiamine-respons... |
ORPHA:85138 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cutis marmorata, Hypoglycemia, Cachexia, Telangiectasia, Subcutaneous hemorrhage |
ORPHA:109 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Adrenocorticotropic hormone excess, Failure to thrive, Congenital adrenal hyperpl... |
ORPHA:90791 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Anemia |
ORPHA:230 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Failure to thrive, Cyanosis, Death in childhood |
OMIM:618426 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Cyanosis, Decreased testicular size |
ORPHA:2326 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Eosinophilia, Weight loss, Urticaria, Acrocyanosis, Purpura |
ORPHA:183 |
Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Hypoglycemia |
ORPHA:173 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normoc... |
ORPHA:66634 |
Meckel Syndrome 14 |
|
Cyanosis, Hepatic fibrosis |
OMIM:619879 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small for gestational age, Slender build, Portal hypertension, Hypoglycemia, Choles... |
OMIM:613658 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Failure to thrive, Cyanosis |
OMIM:610913 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Colob... |
OMIM:236670 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, Neutropenia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hypoglycemia |
OMIM:616007 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:79282 |
Leigh Syndrome |
|
Failure to thrive, Hypoglycemia, Anemia, Neutropenia |
ORPHA:506 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Failure to thrive, Cyanosis |
ORPHA:3427 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Cyanosis, Weight loss, Hypoxemia, Testicular microlithiasis, Oxygen desaturation on... |
ORPHA:60025 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Failure to thrive, Cyanosis |
ORPHA:2886 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Holoprosencephaly |
|
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Cryptorchidism, Abnormality of the... |
ORPHA:2162 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Cyanosis, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure... |
OMIM:306955 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... |
ORPHA:293978 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia |
ORPHA:3008 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Reactive hypoglycemia |
ORPHA:469 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Neonatal hypoglycemia |
ORPHA:565624 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia |
OMIM:620224 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:96182 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hypoglycemia, Large for gestational age, Cryptorchidism, Splenomegaly, Abnormal pan... |
ORPHA:116 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia |
ORPHA:17 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Death in infancy, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly,... |
ORPHA:373 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Hypoglycemia, Orchitis, Thrombocytopenia, Jaundice, Neutrophilia in... |
ORPHA:99826 |
Esophageal Atresia |
|
Cyanosis, Small for gestational age, Failure to thrive in infancy, Maternal diabetes |
ORPHA:1199 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Hypoglycemia, Weight loss |
ORPHA:95409 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Nail bed telangiectasi... |
OMIM:600376 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Hepatic arteriovenous malformation, Cyanosis, Telangiectasia of the ... |
OMIM:187300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Neonatal hypoglycemia |
OMIM:261740 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defi... |
ORPHA:293987 |
Alg12-Cdg |
|
Cryptorchidism, Recurrent hypoglycemia, B lymphocytopenia, Failure to thrive, Thrombocytopenia |
ORPHA:79324 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia |
ORPHA:157 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:90695 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia |
OMIM:616878 |
Atrial Septal Defect, Ostium Primum Type |
|
Failure to thrive, Cyanosis |
ORPHA:99106 |
Acute Liver Failure |
|
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hypocapnia, Hepatic... |
ORPHA:90062 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic steatosis, Hepatic calcification, Hypoketotic hypoglycemia |
ORPHA:228308 |
Menkes Disease |
|
Spontaneous hematomas, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Retinal de... |
OMIM:253280 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Acrocyanosis |
ORPHA:1764 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... |
ORPHA:168558 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenocorticotropic hormone exces... |
ORPHA:289548 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hype... |
OMIM:220111 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Cryp... |
ORPHA:564 |
Pitt-Hopkins Syndrome |
|
Cryptorchidism, Failure to thrive, Acrocyanosis, Supernumerary nipple |
ORPHA:2896 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Hypoglycemia |
ORPHA:786 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Hepatoblastoma, Neonatal hypoglycemia |
OMIM:130650 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chr... |
ORPHA:51 |
Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Weight loss, Vasculitis in the skin... |
ORPHA:48435 |
Congenital Tracheomalacia |
|
Failure to thrive, Cyanosis |
ORPHA:95430 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Cryptorchidism, Coloboma |
OMIM:206900 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... |
ORPHA:449432 |
Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Retinal coloboma |
OMIM:617107 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Weight loss, Severe failure to... |
ORPHA:740 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis |
ORPHA:99050 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:95494 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypoglycemia, Weight loss |
ORPHA:3337 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Weight loss, Acrocyanosis, ... |
ORPHA:221 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Testicular adrenal rest tumor, Weight loss, Hypocapnia, Failure to thrive, Decreased... |
ORPHA:90794 |
Primary Hyperoxaluria |
|
Failure to thrive, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Eisenmenger Syndrome |
|
Hepatomegaly, Cyanosis, Hypochromic microcytic anemia, Hypoxemia, Iron deficiency anemia, Abnorma... |
ORPHA:97214 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Costello Syndrome |
|
Failure to thrive, Lymphangiectasis, Hypoglycemia |
OMIM:218040 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Failure to thrive in infancy, Pancreatic calcification, Hepatic calcification |
ORPHA:51608 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Leukocytosis, Jaundice, Pancreatic hyperplasia, Thrombocytopenia |
ORPHA:99829 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Truncus Arteriosus |
|
Cyanosis, Hypoplasia of the thymus |
ORPHA:3384 |
Neurooculorenal Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary, Recurrent hypoglycemia |
OMIM:620305 |
Goodpasture Syndrome |
|
Cyanosis, Anemia, Weight loss |
OMIM:233450 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small for gestational age, Hypoglycemia, Cryptorchidism, Polycystic ovaries, Ovarian cyst |
OMIM:201750 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Decreased body weight |
OMIM:303600 |
Holoprosencephaly 1 |
|
Hypoglycemia |
OMIM:236100 |
Sotos Syndrome |
|
Cryptorchidism, Hydrocele testis, Acute lymphoblastic leukemia, Prolonged neonatal jaundice, Neon... |
ORPHA:821 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Cyanosis |
ORPHA:99125 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |