| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Abnormality of... |
ORPHA:314811 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia, Intrauterine growth retardation, Severe short stature |
OMIM:223500 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retard... |
OMIM:232700 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Growth delay, Delayed puberty, Short stature |
ORPHA:314802 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature |
OMIM:262700 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age |
OMIM:601820 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Postnatal growth retardation, Short stature |
OMIM:616113 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Growth delay, Severe short stature |
OMIM:262400 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Abnormal circulating selenium concentration, Fasting hypoglycemia, Growth delay, O... |
ORPHA:171706 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hypoalbuminemia, Death in infancy, Intrauterine growth retardation |
OMIM:617156 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Hyper... |
ORPHA:181393 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... |
OMIM:613370 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... |
OMIM:615160 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67046 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... |
ORPHA:231140 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide le... |
ORPHA:276580 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide level, Reactive hypo... |
ORPHA:276556 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Failure to thrive, Hyperalaninemia, Small for gestational age |
OMIM:614702 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... |
ORPHA:752 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Small for ges... |
OMIM:262190 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature |
ORPHA:364 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Increased C-peptide le... |
ORPHA:276575 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia, Death in infan... |
OMIM:619386 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... |
OMIM:601410 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| Glycogen Storage Disease Iii |
|
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, Short stature |
OMIM:232400 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia, Growth delay |
OMIM:306000 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Neonatal death, Hypoglycemia, Death in infanc... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Neonatal death, Hypoglycemia, Death in infanc... |
OMIM:618839 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation, Small for gestational age |
ORPHA:231147 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size |
OMIM:614858 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Intrauterine g... |
OMIM:619048 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Death in childhood, Hypertaurinemia, Neonatal death, Hypoglycemia, Hyperglycin... |
OMIM:245400 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypocalcemia, Growth delay |
ORPHA:163693 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine |
ORPHA:79159 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Failure to thrive |
OMIM:617872 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Failure to thrive, Intrau... |
ORPHA:26792 |
| Mehmo Syndrome |
|
Small for gestational age, Birth length less than 3rd percentile, Hypoglycemia, Delayed puberty, ... |
OMIM:300148 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Short stature, Hypoglycemia, Delayed puberty, Growth delay |
ORPHA:369 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... |
OMIM:617049 |
| Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Dicarboxylic acidemia |
ORPHA:289504 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive, Hyperalaninemia |
OMIM:617950 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Death in childhood, Elevated circulating creatine k... |
OMIM:619055 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Short stature, Sma... |
ORPHA:73272 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth retardation |
OMIM:618838 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive |
ORPHA:67048 |
| Glycogen Storage Disease Ixc |
|
Growth delay, Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Postnatal growth retardation |
OMIM:613027 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... |
OMIM:212140 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Increased C-peptide level, Large for gestational age, Neonatal hyp... |
ORPHA:79644 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Intrauterine growth retardation, Hyperammonemia |
OMIM:618253 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridemia, Growth delay |
OMIM:307030 |
| Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate |
OMIM:614741 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Short stature |
OMIM:262600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Increased serum pyruvate, Hyperprolinemia, Death in infancy, Neonatal hypoglyc... |
OMIM:619046 |
| Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... |
ORPHA:94086 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, ... |
ORPHA:2394 |
| Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... |
ORPHA:79237 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
| Temple Syndrome |
|
Type II diabetes mellitus, Postnatal growth retardation, Short stature, Small for gestational age... |
ORPHA:254516 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Postnatal growth retardation, Small for gestational age, Short stature |
ORPHA:231137 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Failure to thrive, Intrauterine growth retardation |
OMIM:618958 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Laron Syndrome |
|
Severe short stature, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Short stature, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes me... |
OMIM:616026 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Increased serum pyruvate, Hyperprolinemia, Hyperglutaminemia, El... |
OMIM:619355 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
| Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Short stature, Hypoglycemia, Death in infancy, Delayed puberty |
ORPHA:95496 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Short stature, Abnormality of circulating enzyme level, Hypercyst... |
ORPHA:3124 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperammonemia |
OMIM:614739 |
| Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Intrauterine growth retardation, Short stature |
OMIM:618905 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma to... |
ORPHA:42 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Increased body weigh... |
ORPHA:2298 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:246900 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| 47,Xyy Syndrome |
|
Low-set ears, Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligos... |
ORPHA:8 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
| Insulinoma |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight, Reactive hypoglycemia, No... |
ORPHA:97279 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperammonemia, Death in childhood, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia |
OMIM:246450 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Failure to thrive, Hyperglycemia |
OMIM:220111 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypoglycem... |
ORPHA:391408 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Death in infancy, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive |
ORPHA:5 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Low-set ears, Testicular atrophy |
OMIM:601163 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Short stature |
OMIM:256810 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Methylmalonic acidemia |
OMIM:251000 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Facial diplegia, Hypogonadism |
OMIM:160900 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hyperamm... |
OMIM:212138 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... |
OMIM:609015 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Growth delay |
OMIM:251880 |
| Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Failure to thrive, Hypocalcemia, Postnatal growth retardation |
OMIM:606407 |
| Propionic Acidemia |
|
Failure to thrive, Short stature, Hyperammonemia, Hypoglycemia, Hyperglycinemia |
OMIM:606054 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, N... |
OMIM:201475 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Glycosuria, Impaired glucose tol... |
ORPHA:2088 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia |
ORPHA:199296 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Short stature, Elevated circulating creatine kinase concentratio... |
ORPHA:264580 |
| Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
| Glutaric Acidemia I |
|
Hypoglycemia, Failure to thrive, Elevated circulating glutaric acid concentration |
OMIM:231670 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Hypoinsulinemia |
ORPHA:453533 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Pos... |
OMIM:246200 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Growth delay, Small for gestational age, Short stature, Delayed puberty, Recurrent hypoglycemia, ... |
OMIM:616817 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Postnatal growth retardation, Short stature, Ketotic hypoglycemia, Increased body weight, Elevate... |
ORPHA:79240 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine... |
OMIM:210210 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine c... |
OMIM:248600 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia, Hyperuricemia, Fasting hypoglyc... |
ORPHA:348 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
| Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
| Glutaric Acidemia Type 3 |
|
Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutaric acid co... |
ORPHA:35706 |
| Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Obesity |
OMIM:600955 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Short stature |
ORPHA:436174 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Small for gestationa... |
ORPHA:397590 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... |
ORPHA:99901 |
| Cog8-Cdg |
|
Hypoglycemia, Failure to thrive |
ORPHA:95428 |
| Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:202200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Death in childhood, Death in infancy |
OMIM:611126 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Failure to thrive, Nonketotic hyperglycinemia, Growth delay |
OMIM:220120 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Elevated circulating ... |
ORPHA:228305 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Hyperbilirubinemia |
OMIM:619075 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glycosuria, Neonatal death, Elevated circulating glutaric acid concentration |
OMIM:231680 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketotic hypoglycemi... |
ORPHA:26793 |
| Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Growth delay, Delayed puberty |
ORPHA:95619 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:616355 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Rhizomelia, Large for gestational age |
OMIM:616638 |
| Adult Krabbe Disease |
|
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Growth delay, Hypoglycemic seizures |
OMIM:231530 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Death in infancy, Increased circulating free fatty a... |
OMIM:610768 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hypoglutaminemia, Hyperammonemia, Increased serum pyruvate, Hy... |
ORPHA:3008 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials |
OMIM:193700 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Decreased plasma carnitine |
OMIM:201450 |
| Glycogen Storage Disease Ia |
|
Hyperlipidemia, Short stature, Hypoglycemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia... |
OMIM:232200 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemi... |
OMIM:608779 |
| Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Optic atrophy, Hypothyroidism, Diabetes mel... |
OMIM:222300 |
| Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia |
ORPHA:134 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Testicular atrophy, Hypergonadotropic hypogonadism, Primary ame... |
OMIM:157640 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Miscarriage, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
| Silver-Russell Syndrome |
|
Postnatal growth retardation, Short stature, Cachexia, Insulin resistance, Recurrent hypoglycemia... |
ORPHA:813 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physiology, Orthos... |
ORPHA:99027 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Failure to thrive, Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia, Neonatal death |
OMIM:228100 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... |
ORPHA:769 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Intrauterine growth retardation |
OMIM:617710 |
| Mirage Syndrome |
|
Decreased body weight, Short stature, Hypoglycemia, Hyponatremia, Intrauterine growth retardation... |
OMIM:617053 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Hearing impairment, Male hypogonadism, Macrot... |
ORPHA:90321 |
| Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia, Intrauterine growth retardation, Small for gestational age |
OMIM:180860 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
ORPHA:26791 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, ... |
ORPHA:95409 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hypercalcemia, Hyperuric... |
ORPHA:199299 |
| Aarskog-Scott Syndrome |
|
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... |
OMIM:305400 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
ORPHA:480864 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Dela... |
ORPHA:370 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Slender build |
OMIM:617600 |
| Mogs-Cdg |
|
Hydrocele testis, Sensorineural hearing impairment, Absent brainstem auditory responses, External... |
ORPHA:79330 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia |
OMIM:201400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Delayed puberty,... |
OMIM:614921 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Short stature |
OMIM:618005 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Hyperk... |
ORPHA:361 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Isolated Complex I Deficiency |
|
Failure to thrive, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus, Intrauterine growth... |
ORPHA:2609 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated circulating creatine kin... |
OMIM:616878 |
| Addison Disease |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyp... |
ORPHA:85138 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Decreased ... |
OMIM:216400 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Eleva... |
ORPHA:157 |
| Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... |
ORPHA:508 |
| Glycogen Storage Disease Ib |
|
Hyperlipidemia, Short stature, Hypoglycemia, Delayed puberty, Hyperuricemia |
OMIM:232220 |
| Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperk... |
ORPHA:90791 |
| Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
| Dilated Cardiomyopathy With Ataxia |
|
Neonatal hypoglycemia, Growth delay, Intrauterine growth retardation, Elevated circulating glutar... |
ORPHA:66634 |
| Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... |
ORPHA:171929 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitoleylcarnitine c... |
ORPHA:79282 |
| Leigh Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperalaninemia, Growth delay, Intrauterine growth retardation |
ORPHA:506 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Hypoglycemia, Hypertriglyceridemia, Neonatal hypoglycemia, Growth delay, Failu... |
OMIM:619418 |
| Infantile Krabbe Disease |
|
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... |
ORPHA:206436 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity |
OMIM:608624 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... |
ORPHA:228308 |
| Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Elevated alpha-fetoprotein, Hypoglycemia, Hypermethi... |
OMIM:276700 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Failure to thrive |
OMIM:124000 |
| Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia... |
OMIM:229600 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia, Hypermagnesemia, Growth delay |
ORPHA:469 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia, Severe postnatal growth retardation, Short stature |
ORPHA:35173 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia, Failure to thrive in infancy |
ORPHA:746 |
| Kabuki Syndrome 2 |
|
Decreased body weight, Short stature, Neonatal hypoglycemia, Postnatal growth retardation, Intrau... |
OMIM:300867 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Short stature, Hypoglycemia, Hypertriglyceridemia, Hypoglycemi... |
ORPHA:79259 |
| Shigellosis |
|
Hypoglycemia, Abnormal blood ion concentration, Failure to thrive in infancy, Hyponatremia |
ORPHA:810 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Growth delay, Short stature |
OMIM:616007 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperammonemia, Nonketotic hypoglycemia, Hyperuricemia, Recurrent hypoglycemia, Weight loss |
ORPHA:20 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia, Short stature |
OMIM:233600 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Small for gestatio... |
ORPHA:96182 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Hypocalcemia, Short stature, Small for gestational age, Hypogly... |
OMIM:613658 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Intrauterine growth retardation |
ORPHA:565624 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... |
ORPHA:909 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia, Cachexia, Short stature |
ORPHA:109 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, Glucose intolerance, Increased body weight |
OMIM:117550 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Growth delay, Rhizomelia, Intrauterine growth retardation |
OMIM:616271 |
| Mend Syndrome |
|
Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials |
ORPHA:401973 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hypoglycemia, Death in infancy, Hyperalaninemia, Growth delay |
OMIM:252010 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Failure to thrive, Hyponatremia |
ORPHA:293978 |
| Alg12-Cdg |
|
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia, In... |
ORPHA:79324 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Growth delay |
ORPHA:445038 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
| Sheehan Syndrome |
|
Hypoglycemia, Obesity, Hyponatremia |
ORPHA:91355 |
| X-Linked Intellectual Disability, Snyder Type |
|
Low-set ears, Testicular atrophy, EEG abnormality, Hypospadias, Abnormality of the Leydig cells, ... |
ORPHA:3063 |
| Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Hearing impairment, Cryptorchidism, Male infertility |
OMIM:227650 |
| Pituitary Apoplexy |
|
Hypoglycemia, Hyponatremia |
ORPHA:95613 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Delayed puberty |
OMIM:232240 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... |
ORPHA:289548 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Female infertility, Male infertility, Hearing impairment, Abnormal... |
ORPHA:244 |
| Deeah Syndrome |
|
Decreased body weight, Short stature, Death in childhood, Death in adolescence, Death in infancy,... |
OMIM:619004 |
| Holoprosencephaly |
|
Hypoglycemia, Failure to thrive in infancy, Hyponatremia, Diabetes mellitus |
ORPHA:2162 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Growth delay |
ORPHA:17 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Intrauterine growth retardation |
ORPHA:572798 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Obesity |
OMIM:301066 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, El... |
ORPHA:99826 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Failure to thrive, Abnormality of circulating enzyme level, Hyperoxaluria |
ORPHA:93598 |
| Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Male infertility |
OMIM:244400 |
| Bannayan-Riley-Ruvalcaba syndrome |
|
