Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Skin rash |
ORPHA:26 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Dystonia 31 |
|
Abnormal posturing, Depression |
OMIM:619565 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss, Depression |
ORPHA:178029 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:26792 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Lethargy, Failure to thrive |
OMIM:250620 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Weight loss, Lethargy, Perioral eczema |
ORPHA:79242 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Synophrys, Long eyelashes, Failure to thrive in infancy |
OMIM:619064 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
Huntington Disease-Like 1 |
|
Bradykinesia, Abnormal posturing, Weight loss, Depression |
ORPHA:157941 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Hemochromatosis, Type 2A |
|
Arthritis, Lethargy |
OMIM:602390 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive |
OMIM:618226 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Abnormal posturing, Failure to thrive |
OMIM:614857 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Pancreatitis |
OMIM:619386 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Lethargy |
OMIM:238970 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Myelodysplasia |
ORPHA:927 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2394 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy, Pancreatitis |
ORPHA:289916 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
Propionic Acidemia |
|
Pancreatitis, Failure to thrive, Eczema, Lethargy |
OMIM:606054 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276580 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
Typhoid |
|
Skin rash, Lethargy, Infectious encephalitis |
ORPHA:99745 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive |
ORPHA:247525 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Insulinoma |
|
Increased body weight, Neoplasm of the adrenal gland, Pituitary prolactin cell adenoma, Lethargy,... |
ORPHA:97279 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Failure to thrive, Pancreatitis, Lethargy |
OMIM:251000 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Lethargy, Infectious encephalitis |
ORPHA:83317 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Pancreatitis |
ORPHA:27 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Failure to thrive |
OMIM:212140 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia |
ORPHA:42 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Alopecia, Failure to thrive, Seborrheic dermatitis |
OMIM:210210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis, Lethargy |
OMIM:253260 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Multiple lipomas |
ORPHA:765 |
Classic Galactosemia |
|
Lethargy, Depression |
ORPHA:79239 |
Maple Syrup Urine Disease |
|
Lethargy, Pancreatitis |
OMIM:248600 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210200 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Small for gestational age, Pneumonia, Overweight, Obesity, ... |
ORPHA:26793 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Lethargy, Failure to thrive, Skin rash |
ORPHA:79284 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Abnormal posturing, Titubation |
ORPHA:225147 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Depression |
OMIM:128100 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Skin rash, Small for gestational age, Stomatitis, Lethargy, Failure to thrive |
OMIM:277380 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Meningococcal Meningitis |
|
Skin rash, Lethargy, Infectious encephalitis |
ORPHA:33475 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Failure to thrive, Recurrent pneumonia, Small for gestational age |
OMIM:607143 |
Necrotizing Enterocolitis |
|
Lethargy, Peritonitis, Small for gestational age |
ORPHA:391673 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia, Skin rash |
OMIM:253270 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:609015 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy, Failure to thrive |
OMIM:605711 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Increased body weight, Large for gestational age |
ORPHA:263455 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive |
ORPHA:2169 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthritis, Apathy, Lethargy, Weight loss |
ORPHA:465508 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Failure to thrive, Alopecia of scalp |
OMIM:201100 |
Dengue Fever |
|
Lethargy, Skin rash |
ORPHA:99828 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Isolated Atp Synthase Deficiency |
|
Lethargy |
ORPHA:254913 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy |
OMIM:614299 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Lethargy |
OMIM:607483 |
Citrullinemia Type Ii |
|
Lethargy, Mania, Pancreatitis, Decreased body mass index |
ORPHA:247585 |
Ogden Syndrome |
|
Lethargy, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Staphylococcal Necrotizing Pneumonia |
|
Acute infectious pneumonia, Lethargy, Pneumonia |
ORPHA:36238 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Lethargy, Failure to thrive, Trichorrhexis nodosa |
OMIM:207900 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Depression |
ORPHA:99832 |
Late-Onset Isolated Acth Deficiency |
|
Pituitary adenoma, Hepatitis, Weight loss, Lethargy, Failure to thrive, Hashimoto thyroiditis |
ORPHA:199299 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Necrotizing enterocolitis |
OMIM:201475 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy |
OMIM:604377 |
Ebola Hemorrhagic Fever |
|
Lethargy, Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
Sandifer Syndrome |
|
Abnormal posturing, Esophagitis |
ORPHA:71272 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Failure to thrive, Small for gestational age |
ORPHA:97362 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Recurrent otitis media, Lethargy, Failure to thrive, Bronchiectasis |
OMIM:620233 |
Medulloblastoma |
|
Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Lethargy, Neuroblastoma, Cerebellar med... |
ORPHA:616 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Conjunctivitis, Lethargy, Eczematoid dermatitis |
ORPHA:79241 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Failure to thrive |
OMIM:251110 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Acute pancreatitis, Apathy, Weight loss |
ORPHA:20 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive |
OMIM:275350 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Increased body weight, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398069 |
Cirrhosis, Familial |
|
Lethargy, Fulminant hepatitis |
OMIM:215600 |
Familial Hypoaldosteronism |
|
Lethargy, Failure to thrive |
ORPHA:427 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Failure to thrive in infancy |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:71212 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Skin rash |
OMIM:618321 |
Methylmalonic Aciduria, Cbla Type |
|
Lethargy, Failure to thrive |
OMIM:251100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
Citrullinemia, Classic |
|
Lethargy, Failure to thrive |
OMIM:215700 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Depression, Bradykinesia, Lethargy, Failure to thrive |
ORPHA:254892 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Chronic mucocutaneous candidiasis, Abnormal posturing, Failur... |
OMIM:242840 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:395 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Lethargy, Failure to thrive, Small for gestational age, Hypoplastic nipples |
OMIM:614866 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Failure to thrive, Depression |
ORPHA:90674 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Recurrent pneumonia |
ORPHA:1329 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy |
OMIM:608836 |
Trichinellosis |
|
Skin rash, Lethargy, Apathy, Conjunctivitis |
ORPHA:863 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Pearson Marrow-Pancreas Syndrome |
|
Lethargy, Punctate keratitis, Failure to thrive, Small for gestational age |
OMIM:557000 |
Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2609 |
Cholera |
|
Lethargy, Aspiration pneumonia |
ORPHA:173 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive, Hepatitis |
ORPHA:415 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Failure to thrive |
OMIM:277400 |
Posterior Urethral Valve |
|
Lethargy, Pyelonephritis |
ORPHA:93110 |
Glycerol Kinase Deficiency |
|
Lethargy, Small for gestational age, Chronic pancreatitis |
OMIM:307030 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Myelodysplasia, Low anterior hairline, Adenoca... |
ORPHA:124 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Lethargy, Failure to thrive |
ORPHA:79282 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Pustule, Lethargy, Infectious encephalitis |
ORPHA:68 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Failure to thrive |
OMIM:617156 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy, Failure to thrive |
OMIM:252010 |
Semilobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depression, Apathy, Aspiration pneumonia, Lethargy, Failure to thrive |
ORPHA:93924 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Tubulointerstitial nephritis, Membranous nephropathy, Lethargy, Failure to th... |
ORPHA:470 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Pineoblastoma |
|
Lethargy, Retinoblastoma, Pinealoma |
ORPHA:251909 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive |
ORPHA:137675 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Lethargy, Pancrea... |
ORPHA:99826 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy |
ORPHA:226307 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive |
OMIM:229600 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy |
ORPHA:466650 |
Eisenmenger Syndrome |
|
Lethargy, Bacterial endocarditis |
ORPHA:97214 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy |
ORPHA:447 |
Ochoa Syndrome |
|
|
ORPHA:2704 |
Urofacial Syndrome 2 |
|
|
OMIM:615112 |