Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
3-hydroxyacyl-CoA dehydratase 2
Synonyms:
Ptplb,  6330408J20Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hacd2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hacd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Growth delay, Short stature, ... ORPHA:314811
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circula... OMIM:616111
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Failure to thrive, Lactic acidosis, Episodic ketoacidosis OMIM:236795
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Failure to thrive, Lactic acidosis, Intrauterine growth retardation OMIM:615440
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Short stature, Growth delay ORPHA:314802
Short Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Ketotic hypoglycemia, Failure to thrive, Intrauterine growth retardation, Let... ORPHA:26792
Riboflavin Deficiency
Hypoglycemia, Lactic acidosis, Metabolic acidosis, Lethargy OMIM:615026
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 2
Lactic acidosis, Increased circulating lactate concentration, Neonatal death, Lethargy, Small for... OMIM:610498
Dihydrolipoamide Dehydrogenase Deficiency
Lactic acidosis, Metabolic acidosis, Lethargy, Hypoglycemia, Ketoacidosis OMIM:246900
Mitochondrial Complex I Deficiency, Nuclear Type 25
Intrauterine growth retardation, Failure to thrive, Lactic acidosis OMIM:618246
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration OMIM:610090
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lactic acidosis, Elevated serum anion gap, Short stature, Lethargy, Hypoglycemia, Ketoacidosis OMIM:618120
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Failure to thri... OMIM:614096
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Failure to thri... OMIM:618228
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism, Short stature OMIM:262700
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Failure to thrive, Lactic acidosis, Increased circulating lactat... OMIM:616198
Mulibrey Nanism
Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Cachexia, Failure to thrive, Severe lactic acidosis, Weight loss OMIM:612075
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lactic acidosis, Increased circulating lactate concentration, Growth delay, Failure to thrive, Le... OMIM:613561
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex I, Hyperalaninemia, H... OMIM:618378
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Lactic acidosis, Elevated lactate:pyruvate ratio, Episodic ketoacidosis, Metabolic ketoacidosis, ... OMIM:615453
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Chronic lactic acidosis, Lactic acidosis, Metabolic acidosis, Increased circulating lactate conce... OMIM:312170
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypoglycemia, Lactic acidosis ORPHA:163693
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia, Increased circulating la... OMIM:240600
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy, Hypoglycemia OMIM:232700
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Lactic acidosis ORPHA:67048
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib... ORPHA:457050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 10
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Failure to thri... OMIM:614702
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Failure to thrive in infancy, Lactic acidosis OMIM:619065
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Combined Oxidative Phosphorylation Deficiency 48
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:619012
Pyruvate Dehydrogenase E3 Deficiency
Lactic acidosis, Increased circulating lactate concentration, Failure to thrive, Hypoglycemia, Le... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration OMIM:615158
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration OMIM:617872
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Small for gestational age, Lethargy OMIM:617065
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Growth delay, F... OMIM:618226
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy ORPHA:622
Mitochondrial Complex I Deficiency, Nuclear Type 22
Intrauterine growth retardation, Lactic acidosis, Elevated lactate:pyruvate ratio OMIM:618243
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis, Neonatal death, Intrauterin... OMIM:619003
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Hypoketoti... ORPHA:276580
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Mitochondrial Complex I Deficiency, Nuclear Type 34
Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis OMIM:618776
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactat... OMIM:616974
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration OMIM:618234
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Short stature, Glycosuria, Failure to thrive, L... ORPHA:2089
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Intermittent lactic acidemia, Postprandial hyperlactemia, Short stature, Failure... ORPHA:369
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Obesity, Fasting hypoglycemia, Short stature ORPHA:171706
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration OMIM:614741
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Failure to thrive, Lethargy OMIM:274270
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy ORPHA:26
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hypoketotic hypoglycemia, Recurrent hypoglycemi... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lactic acidosis, Elevated lactate:pyruvate ratio, Growth delay, Failure to thrive, Neonatal death... OMIM:245400
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Neonatal hypoglycemia, Decreased body weight, Short stature, Hypogl... ORPHA:231140
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concent... OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Lactic acidosis OMIM:618229
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Clinodactyly, Short neck, Intrauterine... OMIM:615583
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Hypoglycemia, Severe short stature OMIM:262400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Failure to thrive, Lactic acidosis OMIM:618238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... ORPHA:276575
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration ORPHA:255182
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Metabolic acidosis, Increased circulating lactate concentration, Failure to thrive, Intrauterine ... OMIM:619048
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Lethargy OMIM:618224
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:500009
Mitochondrial Complex I Deficiency, Nuclear Type 15
Metabolic acidosis, Increased circulating lactate concentration, Failure to thrive, Neonatal deat... OMIM:618237
Glycogen Storage Disease Ixc
Postnatal growth retardation, Lactic acidosis, Fasting hypoglycemia, Increased circulating lactat... OMIM:613027
Hsd10 Disease, Neonatal Type
Lactic acidosis, Metabolic acidosis ORPHA:391457
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:617228
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Neonatal hypoglycemia, Lactic acidosis, Increased circulating lacta... OMIM:606407
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Failure to thrive, Acidosis, Dicarboxylic acidemia, Hypoglycemia, Ketoaci... ORPHA:289504
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Metabolic acidosis, Short stature, Failure to thrive, Distal renal tubular acidosis, Hyperchlorem... OMIM:611590
Lethal Infantile Mitochondrial Myopathy
Lethargy, Severe lactic acidosis ORPHA:254857
Pyruvate Carboxylase Deficiency
Hypoglycemia, Lactic acidosis, Proximal renal tubular acidosis, Increased circulating lactate con... OMIM:266150
Hsd10 Mitochondrial Disease
Hypoglycemia, Lactic acidosis, Metabolic acidosis OMIM:300438
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Failure to thri... OMIM:615824
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Short stature, Hyperglycemia,... OMIM:262190
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration OMIM:614739
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Increased circulating lactate concentration ORPHA:79246
Mitochondrial Complex I Deficiency, Nuclear Type 33
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Intrauterine gr... OMIM:618253
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Neonatal death OMIM:617184
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Propionic Acidemia
Lactic acidosis, Metabolic acidosis, Short stature, Failure to thrive, Hypoglycemia, Lethargy OMIM:606054
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Metabolic acidosis OMIM:301021
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 47
Metabolic acidosis, Increased circulating lactate concentration, Failure to thrive, Intrauterine ... OMIM:618958
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Lactic acidosis, Small for gestational age OMIM:620135
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Growth ... OMIM:302060
Glutaric Acidemia Type 3
Ketoacidosis, Failure to thrive, Elevated circulating glutaric acid concentration, Lethargy ORPHA:35706
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Metabolic acidosis, Lethargy, Increased circulating lactate concentration OMIM:619386
Mitochondrial Myopathy With Lactic Acidosis
Elevated serum anion gap, Lactic acidosis, Increased circulating lactate concentration OMIM:251950
Spinocerebellar Ataxia 48
Depression, Cachexia OMIM:618093
Combined Oxidative Phosphorylation Deficiency 20
Lactic acidosis, Small for gestational age OMIM:615917
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia, Lactic acidosis, Metabolic acidosis OMIM:248360
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lactic acidosis, Neonatal death, Lethargy OMIM:618232
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Lactic acidosis, Hypoketotic hypoglycemia, Proporti... ORPHA:71212
Multiple Mitochondrial Dysfunctions Syndrome 1
Lactic acidosis, Increased circulating lactate concentration, Failure to thrive, Neonatal death, ... OMIM:605711
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Metabolic acidosis, Failure ... OMIM:251110
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Central Diabetes Insipidus
Depression, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Coenzyme Q10 Deficiency, Primary, 4
Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration OMIM:612016
Sulfide:Quinone Oxidoreductase Deficiency
Lactic acidosis OMIM:619221
Succinic Acidemia
Lactic acidosis OMIM:600335
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration ORPHA:70472
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concent... OMIM:619055
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia, Small for gestational age ORPHA:231147
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Lactic acidosis ORPHA:939
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis OMIM:614053
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Metabolic acidosis, Small for gestational age, Increased circulating lactate concen... OMIM:615160
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia, Lactic acidosis OMIM:306000
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Lactic acidosis OMIM:618241
Mehmo Syndrome
Delayed puberty, Obesity, Hypoglycemia, Birth length less than 3rd percentile, Small for gestatio... OMIM:300148
Mitochondrial Complex I Deficiency, Nuclear Type 14
Lactic acidosis, Increased circulating lactate concentration OMIM:618236
Oxoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration OMIM:203740
Pulmonary Blastoma
Weight loss ORPHA:64741
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis OMIM:608782
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Abnormality of chromosome stability, Intrauterine growth retardation OMIM:600546
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy, Increased circulating lactate concentration OMIM:619064
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Lactic acidosis ORPHA:2598
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Lactic acidosis ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 28
Severe lactic acidosis, Increased circulating lactate concentration OMIM:616794
Sengers Syndrome
Growth delay, Exercise-induced lactic acidemia, Lactic acidosis, Increased circulating lactate co... OMIM:212350
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Insulinoma
Hyperinsulinemia, Increased body weight, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperin... ORPHA:97279
Mitochondrial Trifunctional Protein Deficiency 1
Lactic acidosis, Hypoketotic hypoglycemia, Failure to thrive, Lethargy, Small for gestational age OMIM:609015
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased circulating lactate concentration ORPHA:139485
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Hypoglycemia, Lethargy ORPHA:42
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Mitochondrial Complex I Deficiency, Nuclear Type 4
Metabolic acidosis, Lethargy, Increased circulating lactate concentration OMIM:618225
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Lethargy, Episodic metabolic acidosis OMIM:210200
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Lethargy, Increased circulating lactate concentration OMIM:611523
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Elevated creatine kinase after exercise, Limb-girdle muscle weakn... ORPHA:352470
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acid... OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased circulating lactate concentration OMIM:618239
Aredyld Syndrome
Lipoatrophy, Cachexia, Short stature, Type II diabetes mellitus, Intrauterine growth retardation,... ORPHA:1133
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Increased circulating lactate concentration OMIM:617950
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Lactic acidosis ORPHA:330054
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lactic acidosis, Increased circulating lactate concentration, Intrauterine growth retardation, Co... ORPHA:79243
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Huntington Disease-Like 2
Bradykinesia, Depression, Inertia, Weight loss, Apathy OMIM:606438
Renpenning Syndrome
Growth delay, Cachexia, Diabetes mellitus, Severe short stature ORPHA:3242
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Lactic acidosis, Lethargy, Increased circulating lactate concentration OMIM:615838
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Lethargy ORPHA:28
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Lactic acidosis ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 8
Lactic acidosis, Increased circulating lactate concentration OMIM:618230
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Lactic acidosis, Lethargy OMIM:248600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipoatrophy, Cachexia, Reduced subcutaneous adipose tissue, Lipodystrophy, Weight loss, Type I di... ORPHA:1979
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Microcephaly, Amish Type
Failure to thrive, Lactic acidosis OMIM:607196
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Lactic acidosis OMIM:618838
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Neonatal death, Lactic acidosis OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Neonatal death, Lactic acidosis OMIM:618839
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Methylmalonic acidemia, Lethargy OMIM:236270
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Lactic acidosis, Increased circulating lactate concentration OMIM:614654
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Metabolic acidosis OMIM:245349
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:610006
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Metabolic acidosis, Elevated... OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Lactic acidosis, Increased circulating lactate concentration OMIM:619059
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Metabolic ketoacidosis, Failure to thrive, Episodic metabolic acidosis, H... OMIM:251000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Abnormal mitochondrial morphology, Lower li... ORPHA:99013
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Lactic acidosis, Diabetes mellitus OMIM:540000
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Lactic acidosis, Methylmalonic acidemia, Increased circulating lactate concentration, Short statu... OMIM:612073
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Stippled calcification proximal humeral epiphyses, Short stature, Hip contracture, Sh... OMIM:222765
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Hypoglycemia, Postnatal growth retardation, Small for gestational age ORPHA:231137
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe postnatal growth retardation, Severe intrauterine growth ret... ORPHA:73272
Chronic Hiccup
Depression, Weight loss ORPHA:396
Leigh Syndrome
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:256000
Gracile Syndrome
Intrauterine growth retardation, Chronic lactic acidosis OMIM:603358
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lactic acidosis OMIM:615119
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Metabolic acidosis, Abnormal oral glucose tolerance OMIM:606824
Combined Oxidative Phosphorylation Deficiency 5
Growth delay, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration OMIM:611719
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Hypercalcemia, Infantile, 1
Failure to thrive, Lethargy, Weight loss OMIM:143880
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Intrauterine gr... OMIM:617021
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lactic acidosis, Increased circulating lactate concentration OMIM:614458
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Increased circulating lacta... OMIM:610678
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Respiratory alk... OMIM:615751
Temple Syndrome
Postnatal growth retardation, Short stature, Obesity, Type II diabetes mellitus, Recurrent hypogl... ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Increased circulating lacta... OMIM:619051
Infantile Liver Failure Syndrome 1
Failure to thrive, Lactic acidosis OMIM:615438
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Lactic acidosis, Renal tubular acidosis, Increased circulating lactate concentration,... OMIM:614922
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Ascending tubu... ORPHA:453499
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lactic acidosis, Increased circulating lactate concentration OMIM:617668
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy OMIM:238750
Glycine Encephalopathy 1
Lethargy OMIM:605899
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia, Lactic acidosis, Increased circulating lactate con... OMIM:617710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Cachexia, Failure to thrive in infancy OMIM:616801
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Stress/infection-induced lactic acidosis, Elevated lactate:pyruvate ratio, Increas... OMIM:252011
Diarrhea 13
Failure to thrive, Recurrent hypoglycemia OMIM:620357
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration OMIM:620137
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Lactic acidosis, Increased circulating lactate concentration OMIM:615578
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Lactic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Keto... ORPHA:79240
Silver-Russell Syndrome
Postnatal growth retardation, Cachexia, Short stature, Failure to thrive in infancy, Obesity, Rec... ORPHA:813
Lipoyltransferase 1 Deficiency
Lactic acidosis, Increased circulating lactate concentration OMIM:616299
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Lactic acidosis OMIM:618805
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Lactic acidosis, Increased circulating lactate concentration, Growth delay, Fail... OMIM:600462
Ethylmalonic Encephalopathy
Failure to thrive, Lactic acidosis ORPHA:51188
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Lactic acidosis, Weight loss ORPHA:298
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Short stature, Hypoglycemia OMIM:620211
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis OMIM:614111
Isolated Complex I Deficiency
Lactic acidosis, Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Diabetes melli... ORPHA:2609
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hyperchloremic acidosis, Bicarbona... OMIM:604278
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Short stature, Growth delay, Abdominal obesity ORPHA:631
Citrullinemia Type I
Failure to thrive, Lethargy, Respiratory alkalosis ORPHA:247525
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased circulating lactate concentration OMIM:618416
Necrotizing Enterocolitis
Metabolic acidosis, Abnormal glucose homeostasis, Increased circulating lactate concentration, Hy... ORPHA:391673
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Metabolic acidosis, Increased circulating lactate concentration ORPHA:79096
Hsd10 Disease, Infantile Type
Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration ORPHA:391428
Encephalopathy, Ethylmalonic
Failure to thrive, Lactic acidosis OMIM:602473
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Lethargy, Respiratory alkalosis OMIM:237300
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Carnitine Deficiency, Systemic Primary
Failure to thrive, Lethargy, Recurrent hypoglycemia, Impaired gluconeogenesis OMIM:212140
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Severe postnatal growth retardation, Finger syndactyly, Tapered finger... ORPHA:435938
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:619272
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Lactic acidosis OMIM:609560
Christianson Syndrome
Cachexia ORPHA:85278
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:614388
Idiopathic Intracranial Hypertension
Depression, Obesity, Lethargy ORPHA:238624
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Diabetes mellitus, Lethargy ORPHA:49827
Hsd10 Disease
Postnatal growth retardation, Chronic lactic acidosis ORPHA:391417
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Lethargy, Renal tubular acidosis ORPHA:156
Combined Oxidative Phosphorylation Deficiency 1
Intrauterine growth retardation, Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased c... OMIM:609060
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Metabolic acidosis, Lethargy OMIM:201450
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated serum anion gap, Increased circulat... OMIM:614582
Isolated Glycerol Kinase Deficiency
Short stature, Metabolic acidosis ORPHA:408
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Lactic acidosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Metabolic acidosis, Failure to thrive, Lethargy, Hypoglycemia, Ketoacidosis OMIM:210210
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus ORPHA:2047
Isolated Atp Synthase Deficiency
Short stature, Lactic acidosis, Lethargy ORPHA:254913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lactic acidosis, Elevated lactate:pyruvate ratio, Lethargy, Increased circulating lactate concent... OMIM:604377
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Lactic acidosis, Decreased body weight ORPHA:255138
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Lactic acidosis OMIM:618815
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Cachexia, Absence of subcutaneous fat, F... OMIM:610965
Isovaleric Acidemia
Ketoacidosis, Metabolic acidosis, Lethargy OMIM:243500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Severe Canavan Disease
Lethargy ORPHA:314911
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Lactic acidosis, Metabolic acidosis, Fasting hypoglycemia, Intermittent la... ORPHA:348
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Lactic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Increased body we... ORPHA:264580
Beta-Ketothiolase Deficiency
Metabolic acidosis, Increased circulating lactate concentration, Hyperglycemia, Acidosis, Weight ... ORPHA:134
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Elevated circulating creatine kinase co... ORPHA:352447
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Holoprosencephaly
Congenital diaphragmatic hernia, Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Abnor... ORPHA:2162
Hawkinsinuria
Failure to thrive, Metabolic acidosis ORPHA:2118
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Short stature, Failure to thrive, Lethargy, Growth delay OMIM:250940
Distal 22Q11.2 Microdeletion Syndrome
Clinodactyly of the 5th finger, Aortic regurgitation, Sandal gap, Aortic aneurysm, Truncus arteri... ORPHA:261330
Renal Hypoplasia, Bilateral
Metabolic acidosis, Short stature, Glycosuria, Failure to thrive, Growth delay, Lethargy, Small f... ORPHA:97362
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Lactic acidosis, Metabolic acidosis OMIM:616501
Idiopathic Achalasia
Weight loss ORPHA:930
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Lactic acidosis, Increased circulating lactate concen... ORPHA:99901
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Dihydropyrimidinase Deficiency
Growth delay, Failure to thrive, Metabolic acidosis, Lethargy OMIM:222748
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Metabolic acidosis, Lethargy OMIM:229700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactat... OMIM:618250
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Failure to thrive, Methylmalonic acidemia, Lethargy OMIM:614857
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Lethargy OMIM:277410
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Hyperchloremic metabolic acidosis OMIM:610370
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Intrauterine growth retardation, Cachexia, Severe failure to thrive, Short stature ORPHA:371364
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Short stature, Lactic acidosis ORPHA:1170
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Lactic acidosis, Metabolic acidosis OMIM:615595
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Lethargy OMIM:250620
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Lethargy ORPHA:79230
Holocarboxylase Synthetase Deficiency
Growth delay, Lethargy, Weight loss ORPHA:79242
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis ORPHA:2597
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Increased body weight, Metabolic acidosis, Recurrent hypoglyc... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Metabolic acidosis, Acidosis OMIM:618235
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Decreased body weight, Intrauterine growth ... ORPHA:391408
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Methylmalonic acidemia, Ragged-red muscle fibers, Abnormal mitochondrial shape, Pate... ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Lactic acidosis, Metabolic acidosis, Elevated lactate:pyruvate ratio, Depression, Increased circu... OMIM:124000
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lactic acidosis, Lethargy OMIM:614299
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Metabolic acidosis, Distal renal tubular acidosis OMIM:602722
Familial Hypoaldosteronism
Metabolic acidosis, Growth delay, Failure to thrive, Proximal renal tubular acidosis, Lethargy ORPHA:427
Classic Galactosemia
Depression, Hypoglycemia, Lethargy, Delayed puberty ORPHA:79239
Oligomeganephronia
Congenital diaphragmatic hernia, Hypertension, Dehydration, Pulmonary venous occlusion, Secundum ... ORPHA:2260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Lactic acidosis, Increased circulating lactate concentration, Growth delay, Failure to thrive, Ne... OMIM:614052
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Kearns-Sayre Syndrome
Lactic acidosis, Renal tubular acidosis, Short stature, Diabetes mellitus, Renal Fanconi syndrome OMIM:530000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Lactic acidosis, Stress/infection-induced lactic acidosis, Small... OMIM:618775
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia OMIM:600649
Branchiogenic-Deafness Syndrome
Short stature, Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Fumarase Deficiency
Decreased fumarate hydratase activity, Lactic acidosis, Metabolic acidosis, Reduced subcutaneous ... OMIM:606812
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Metabolic acidosis, Short stature, Glycosuria, Hypoglycemia, Diabetes ... OMIM:616026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Lethargy ORPHA:79312
Pyruvate Carboxylase Deficiency
Lactic acidosis, Metabolic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lacta... ORPHA:3008
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Alkalosis, Lethargy OMIM:237310
Glycerol Kinase Deficiency
Ketoacidosis, Metabolic acidosis, Increased circulating lactate concentration, Short stature, Gro... OMIM:307030
Pelizaeus-Merzbacher Disease
Short stature, Cachexia, Failure to thrive in infancy ORPHA:702
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Hypoinsulinemia, Glycosuri... ORPHA:552
Gracile Syndrome
Intrauterine growth retardation, Lactic acidosis, Renal Fanconi syndrome ORPHA:53693
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration OMIM:618329
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Webbed neck, Hydrocephalus, Low posterior hairline, Tr... ORPHA:261337
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased circulating lactate concentration OMIM:617664
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Lactic acidosis, Renal tubular acidosis, Increased circulating lactate concentration, Growth dela... OMIM:615471
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondri... OMIM:602541
Infantile Liver Failure Syndrome 2
Hypoglycemia, Lethargy OMIM:616483
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation, Lethargy ORPHA:2169
3-Hydroxy-3-Methylglutaric Aciduria
Metabolic acidosis, Increased circulating lactate concentration, Nonketotic hypoglycemia, Weight ... ORPHA:20
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Coloboma, Increased nuchal trans... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Coloboma, Increased nuchal trans... ORPHA:352665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Hypoglycemia, Short stature ORPHA:48431
Laron Syndrome
Delayed puberty, Hypoglycemia, Truncal obesity, Severe short stature ORPHA:633
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Hypoketotic hypoglycemia, Obesity, Lethargy, Overweight, Small for gestationa... ORPHA:26793
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Lactic acidosis, Large for gestational age OMIM:614520
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Lactic acidosis, Increased circulating lactate concentration, Glycosuria, Failure to thrive, Rena... OMIM:220110
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Lethargy OMIM:238970
Cantu Syndrome
Bicuspid aortic valve, Short hallux, Lymphedema, Umbilical hernia, Pericardial effusion, Short ne... OMIM:239850
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Cachexia, Failure to thrive, Growth delay ORPHA:217346
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis OMIM:618240
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Lactic acidosis ORPHA:444013
Perry Syndrome
Depression, Apathy, Weight loss ORPHA:178509
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Lactic acidosis, Increased circulating lactate concentration OMIM:614462
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Pyruvate Dehydrogenase E2 Deficiency
Lactic acidosis OMIM:245348
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Severe lactic acidosis, Increased circulating lactate concentration OMIM:615418
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, H... OMIM:246200
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Multiple lipomas, Lethargy, Growth delay ORPHA:765
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Severe lactic acidosis ORPHA:254864
Huntington Disease-Like 2
Weight loss ORPHA:98934
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis OMIM:231900
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Lactic acidosis OMIM:611126
2,4-Dienoyl-Coa Reductase Deficiency
Intrauterine growth retardation, Failure to thrive, Metabolic acidosis, Increased circulating lac... OMIM:616034
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Lethargy ORPHA:927
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:614924
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketoacidosis OMIM:616095
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased activity of mitochondr... OMIM:500013
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Lethargy, Episodic metabolic acidosis OMIM:201470
Aromatic L-Amino Acid Decarboxylase Deficiency
Short stature, Failure to thrive, Hypoglycemia ORPHA:35708
Fanconi-Bickel Syndrome
Metabolic acidosis, Fasting hypoglycemia, Renal tubular acidosis, Impaired glucose tolerance, Gro... ORPHA:2088
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Failure to thrive, Lactic acidosis, Renal Fanconi syndrome ORPHA:436271
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Mitochondrial Phosphate Carrier Deficiency
Lactic acidosis, Metabolic acidosis OMIM:610773
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lactic acidosis, Elevated lactate:pyruvate ratio, Growth delay, Failure to thrive, Severe lactic ... OMIM:252010
Cholera
Acidosis, Hypoglycemia, Lactic acidosis, Lethargy ORPHA:173
Fructose Intolerance, Hereditary
Lactic acidosis, Metabolic acidosis, Glycosuria, Failure to thrive, Proximal renal tubular acidos... OMIM:229600
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Failure to thrive, Lethargy, Hypoglycemia, Small for gestational age OMIM:607143
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Failure to thrive, Hypoglycemia, Lactic acidosis OMIM:251880
Holocarboxylase Synthetase Deficiency
Lactic acidosis, Metabolic acidosis, Lethargy OMIM:253270
Combined Oxidative Phosphorylation Deficiency 59
Failure to thrive, Ketotic hypoglycemia, Apathy, Increased circulating lactate concentration OMIM:620646
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Lethargy ORPHA:289916
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Pseudo-Torch Syndrome 2
Lactic acidosis, Lethargy OMIM:617397
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Abnormal heart morphology, Intrauterine growth r... ORPHA:508488
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Short stature OMIM:261750
Leigh Syndrome
Lactic acidosis, Renal tubular acidosis, Increased circulating lactate concentration, Growth dela... ORPHA:506
Central Neurocytoma
Depression, Lethargy ORPHA:73256
Melas
Lactic acidosis, Depression, Bipolar affective disorder, Increased circulating lactate concentrat... ORPHA:550
Glycogen Storage Disease Ia
Delayed puberty, Lactic acidosis, Fasting hypoglycemia, Growth delay, Short stature, Hypoglycemia OMIM:232200
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Short stature, Short distal phalanx of fi... ORPHA:50815
Pearson Marrow-Pancreas Syndrome
Lactic acidosis, Metabolic acidosis, Failure to thrive, Renal Fanconi syndrome, Lethargy, Type I ... OMIM:557000
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration, Metabolic acid... OMIM:231670
3-Methylglutaconic Aciduria, Type I
Failure to thrive, Metabolic acidosis OMIM:250950
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Stress/infection-induced lactic acidosis, Renal tubular acidosis ORPHA:431361
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Metabolic acidosis OMIM:611555
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Weight loss, Diabetes mellitus, Apathy, Lethargy ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia, Renal tubular acidosis OMIM:255120
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Overweight, Lethargy, Growth delay ORPHA:99832
Whipple Disease
Depression, Cachexia, Insulin resistance ORPHA:3452
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Short stature, Growth delay, Recurrent hypoglycemia, Intrauterine growth retarda... OMIM:616817
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia, Increased circulating lactate concentration OMIM:620609
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Juvenile Huntington Disease
Depression, Weight loss, Bradykinesia ORPHA:248111
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Lactic acidosis, Metabolic acidosis, Short stature, Failure to thrive, Growth delay, Recurrent hy... OMIM:256810
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Hypoglycemia, Postnatal growth retardation, Small for gestationa... ORPHA:397590
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Metabolic acidosis, Increased circulating lactate concentration OMIM:617290
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age ORPHA:79237
D-Glyceric Aciduria
Growth delay, Failure to thrive, Hypoglycemia, Metabolic acidosis OMIM:220120
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss ORPHA:77297
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Metabolic acidosis, Failure ... OMIM:277400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Lactic acidosis, Increased circulating lactate concentration, Glycosuria, Failure to thrive, Gluc... OMIM:616539
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Neonatal hypoglycemia, Lactic acidosis, Increased circulating la... ORPHA:572798
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lactic acidosis, Metabolic acidosis ORPHA:26791
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Rett Syndrome
Short stature, Cachexia OMIM:312750
Erythrokeratodermia Variabilis
Short stature, Diabetes mellitus, Weight loss ORPHA:317
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration OMIM:616878
Silver-Russell Syndrome 2
Short stature, Neonatal hypoglycemia, Intrauterine growth retardation OMIM:618905
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Lactic acidosis, Increased circulating lactate concentration ORPHA:480864
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in muscle fi... ORPHA:397744
Amyotrophic Lateral Sclerosis
Depression, Cachexia ORPHA:803
Combined Oxidative Phosphorylation Deficiency 3
Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Se... OMIM:610505
Isaacs Syndrome
Weight loss ORPHA:84142
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death, Metabolic acidosis, Increased circulating lactate concentration OMIM:620300
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Insulin resistance, Metabolic acidosis, Small for gestational age OMIM:214150
Malignant Hyperthermia, Susceptibility To, 2
Lactic acidosis OMIM:154275
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Short stature, Failure to thrive, Lethargy, Small for gestational age OMIM:277380
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Lactic acidosis, Increased circulating lactate concentration OMIM:617713
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Increased body weight, Dec... ORPHA:2298
Susac Syndrome
Apathy, Lethargy ORPHA:838
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Short stature, Centrally nuc... OMIM:619518
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Metabolic acidosis, Increased circulating lactate concentration ORPHA:88639
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Lethargy OMIM:212138
Malignant Hyperthermia, Susceptibility To, 3
Lactic acidosis OMIM:154276
Pituitary Stalk Interruption Syndrome
Delayed puberty, Failure to thrive, Hypoglycemia, Short stature ORPHA:95496
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Slender build, Lactic acidosis, Weight loss OMIM:603041
Primary Myelofibrosis
Cachexia ORPHA:824
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lactate concentration OMIM:618247
Late-Onset Isolated Acth Deficiency
Failure to thrive, Type I diabetes mellitus, Weight loss, Hypoglycemia, Lethargy ORPHA:199299
Fanconi-Bickel Syndrome
Postnatal growth retardation, Fasting hypoglycemia, Chronic acidosis, Glycosuria, Reduced subcuta... OMIM:227810
Propionic Acidemia
Hypoglycemia ORPHA:35
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia, Hypoglycemia, Lipoma ORPHA:109
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiootorenal Syndrome 1
Facial palsy, Branchial fistula, Branchial cyst OMIM:113650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Facial palsy, Pulmonary arterial hypertension, Unconjugated... OMIM:620186
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Obesity ORPHA:85293
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Hereditary Fructose Intolerance
Growth delay, Metabolic acidosis, Reactive hypoglycemia, Lethargy ORPHA:469
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Lactic acidosis, Increased circulating lactate concentration OMIM:614946
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Failure to thrive, Lethargy, Growth delay ORPHA:79284
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Metabolic acidosis OMIM:251120
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Liver Failure, Infantile, Transient
Lactic acidosis, Increased circulating lactate concentration OMIM:613070
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Failure to thrive, Lethargy OMIM:201100
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Metabolic acidosis, Weight loss, Proportionate short stature ORPHA:171876
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Lethargy, Hypoketotic hypoglycemia ORPHA:746
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Lactic acidosis, Lethargy ORPHA:137675
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Lethargy OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia, Severe lactic acidosis OMIM:619355
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia ORPHA:2126
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Galactosemia I
Failure to thrive, Hyperchloremic metabolic acidosis, Metabolic acidosis OMIM:230400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lactic acidosis, Neonatal death OMIM:619167
Silver-Russell Syndrome 1
Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia OMIM:180860
Treacher-Collins Syndrome
Iris coloboma, Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis OMIM:150170
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Hypoglycemia, Hypoinsulinemia, Type II diabetes mellitus ORPHA:453533
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Failure to thrive, Intrauterine growth retardation, Hypoglycemia, S... OMIM:617093
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Lethargy, Hypoketotic hypoglycemia ORPHA:159
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Citrullinemia, Classic
Failure to thrive, Lethargy, Respiratory alkalosis OMIM:215700
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Depression, Bipolar affective disorder, Increased circulating lactate concentration... ORPHA:254892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Lactic acidosis, Increased circulating lactate concentration OMIM:620358
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Rhizomelia OMIM:616638
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Decreased serum bicarbonate concentration, Lethargy OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia, Increased circulating lactate concentration OMIM:620275
Fanconi Renotubular Syndrome 3
Growth delay, Glycosuria, Metabolic acidosis, Short stature OMIM:615605
Branchiootic Syndrome