Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Ab... |
OMIM:619565 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Gait disturbance, Lethargy |
ORPHA:79283 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Gait disturbance, Skin rash, Lethargy |
ORPHA:26 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Ataxia, Lethargy |
ORPHA:622 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy |
OMIM:606777 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Confusion, Lethargy |
OMIM:617900 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Lethargy |
OMIM:274270 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Coma, Confusion, Lethargy |
OMIM:237310 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Ataxia, Lethargy |
OMIM:618224 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Confusion, Lethargy |
OMIM:613002 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy |
OMIM:618228 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Lethargy |
OMIM:613710 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Perioral eczema, Weight loss, Alopecia, Ataxia, Coma, Keratoconjunctivitis, Lethargy |
ORPHA:79242 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Weight loss, Inability to walk, Tip-toe gait, Generalized dystonia, Attention d... |
ORPHA:216866 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Dystonia, Lethargy |
ORPHA:26792 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Lethargy |
OMIM:605711 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Lethargy |
OMIM:201470 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Episodic ataxia, Small for gestational age, Lethargy |
OMIM:312170 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Coma, Lethargy |
ORPHA:28 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Drowsiness, Myelodysplasia, Failure to thrive, Ataxia, Coma, Loss of consciousness, Delirium, Con... |
ORPHA:927 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... |
ORPHA:101150 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Lethargy |
ORPHA:163703 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Drowsiness, Increased body weight, Lethargy |
ORPHA:276608 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Dystonia, Ataxia, Lethargy |
ORPHA:71277 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Lethargy |
ORPHA:30925 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Dystonia, Ataxia, Lethargy |
OMIM:618226 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Lethargy |
OMIM:610498 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Drowsiness, Small for gestational age, Large for gestational age, Loss of consciousness, Hypoglyc... |
ORPHA:324575 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Excessive daytime somnolence, Lethargy |
ORPHA:178029 |
Citrullinemia Type I |
|
Torticollis, Failure to thrive, Ataxia, Coma, Loss of consciousness, Lethargy |
ORPHA:247525 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Gait disturbance, Lethargy |
OMIM:236270 |
Glycerol Kinase Deficiency |
|
Coma, Loss of consciousness, Small for gestational age, Lethargy |
OMIM:307030 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276556 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Failure to thrive, Pancreatitis, Coma, Lethargy |
ORPHA:79312 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Lethargy |
OMIM:246900 |
Multiple Carboxylase Deficiency |
|
Alopecia, Ataxia, Coma, Skin rash, Lethargy |
ORPHA:148 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276575 |
Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
Severe Canavan Disease |
|
Inability to walk, Lethargy |
ORPHA:314911 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Lethargy |
OMIM:618225 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276580 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Excessive daytime somnolence, Coma, Confusion, Lethargy |
OMIM:212140 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Dopa-Responsive Dystonia |
|
Dystonia, Gait disturbance, Arm dystonia, Inability to walk, Generalized dystonia, Oculogyric cri... |
ORPHA:255 |
Insulinoma |
|
Neuroendocrine neoplasm, Zollinger-Ellison syndrome, Neoplasm of the adrenal gland, Coma, Reduced... |
ORPHA:97279 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Alopecia of scalp, Lethargy |
OMIM:201100 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Abnormal posturing |
ORPHA:157941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy, Long eyelashes, Synophrys |
OMIM:619064 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Gait disturbance, Ataxia, Lethargy |
OMIM:615838 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis, Lethargy |
ORPHA:205 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Ataxia, Coma, Episodic ataxia, Lethargy |
OMIM:311250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Coma, Pancreatitis, Lethargy |
ORPHA:289916 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Blepharospasm, Torsion dystonia, Abnormal posturing |
OMIM:128100 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Acute hepatitis, Coma, Confusion, Lethargy |
OMIM:238970 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Abnormal posturing |
OMIM:304700 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Failure to thrive, Pancreatitis, Coma, Lethargy |
OMIM:251000 |
Hemochromatosis, Type 2A |
|
Arthritis, Lethargy |
OMIM:602390 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Typhoid |
|
Infectious encephalitis, Ataxia, Coma, Skin rash, Lethargy |
ORPHA:99745 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dystonia, Bradykinesia, Loss of consciousness, Reduced consciousness/confusion,... |
ORPHA:225147 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Ataxia, Coma, Lethargy |
OMIM:237300 |
Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
Citrullinemia Type Ii |
|
Drowsiness, Hepatocellular carcinoma, Decreased body mass index, Pancreatitis, Hyperactivity, Com... |
ORPHA:247585 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Lethargy |
OMIM:143880 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Lethargy |
OMIM:619386 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Lethargy |
OMIM:614299 |
Galactosemia |
|
Dystonia, Gait disturbance, Gait imbalance, Failure to thrive, Ataxia, Lethargy |
ORPHA:352 |
Leukoencephalopathy With Vanishing White Matter |
|
Unsteady gait, Gait disturbance, Lethargy |
OMIM:603896 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Coma, Pancreatitis, Lethargy |
ORPHA:27 |
Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Anterior uveitis, Skin rash, Reduced consciousness/confusio... |
ORPHA:83317 |
Central Neurocytoma |
|
Ataxia, Coma, Lethargy |
ORPHA:73256 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia, Coma, Loss of consciousness, Lethargy |
ORPHA:42 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Truncal titubation, Coma, Inability to walk, Craniofacial dystonia, Gait ataxia, Confus... |
OMIM:607483 |
Glutaric Acidemia Type 3 |
|
Failure to thrive, Lethargy |
ORPHA:35706 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Ataxia, Lethargy |
ORPHA:2394 |
Idiopathic Intracranial Hypertension |
|
Obesity, Lethargy |
ORPHA:238624 |
Propionic Acidemia |
|
Dystonia, Eczema, Failure to thrive, Pancreatitis, Coma, Lethargy |
OMIM:606054 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Lethargy |
OMIM:614857 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Seborrheic dermatitis, Alopecia, Coma, Lethargy |
OMIM:210210 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Truncal ataxia, Lethargy |
OMIM:130950 |
Maple Syrup Urine Disease |
|
Ataxia, Coma, Pancreatitis, Lethargy |
OMIM:248600 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Dystonia, Gait disturbance, Ataxia, Multiple lipomas |
ORPHA:765 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Lethargy |
OMIM:618120 |
Classic Galactosemia |
|
Dystonia, Gait disturbance, Gait imbalance, Ataxia, Attention deficit hyperactivity disorder, Let... |
ORPHA:79239 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Coma, Lethargy |
OMIM:210200 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Holocarboxylase Synthetase Deficiency |
|
Coma, Alopecia, Skin rash, Lethargy |
OMIM:253270 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Loss of consciousness, Lethargy |
ORPHA:156 |
Hemochromatosis Type 2 |
|
Lethargy |
ORPHA:79230 |
Susac Syndrome |
|
Gait ataxia, Confusion, Lethargy |
ORPHA:838 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Lethargy |
ORPHA:2089 |
Meningococcal Meningitis |
|
Drowsiness, Infectious encephalitis, Skin rash, Reduced consciousness/confusion, Lethargy |
ORPHA:33475 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Lethargy |
OMIM:611590 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Methylcobalamin Deficiency Type Cble |
|
Drowsiness, Failure to thrive, Excessive daytime somnolence, Loss of consciousness, Lethargy |
ORPHA:2169 |
Isovaleric Acidemia |
|
Coma, Lethargy |
OMIM:243500 |
Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Lethargy |
OMIM:222748 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Drowsiness, Large for gestational age, Coma, Increased body weight, Lethargy |
ORPHA:263455 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Lethargy |
OMIM:233910 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysmetria, Head titubation, Lethargy |
OMIM:301790 |
Ogden Syndrome |
|
Fine hair, Torticollis, Shuffling gait, Excessive daytime somnolence, Aplasia/Hypoplasia of the e... |
ORPHA:276432 |
Medulloblastoma |
|
Neuroblastoma, Neoplasm of the lung, Cerebellar ataxia associated with quadrupedal gait, Adenomat... |
ORPHA:616 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Ataxia, Skin rash, Lethargy |
OMIM:618321 |
Biotinidase Deficiency |
|
Lethargy, Seborrheic dermatitis, Alopecia, Ataxia, Recurrent skin infections, Skin rash, Conjunct... |
OMIM:253260 |
Myxedema |
|
Lethargy |
OMIM:255900 |
Sandifer Syndrome |
|
Torticollis, Esophagitis, Abnormal posturing |
ORPHA:71272 |
Argininosuccinic Aciduria |
|
Dry hair, Failure to thrive, Brittle hair, Trichorrhexis nodosa, Ataxia, Coma, Lethargy |
OMIM:207900 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Stomatitis, Skin rash, Lethargy |
OMIM:277380 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Weight loss, Arthritis, Lethargy |
ORPHA:465508 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Lethargy |
OMIM:255120 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Stomatitis, Skin rash, Lethargy |
ORPHA:79284 |
Necrotizing Enterocolitis |
|
Peritonitis, Small for gestational age, Lethargy |
ORPHA:391673 |
Staphylococcal Necrotizing Pneumonia |
|
Acute infectious pneumonia, Confusion, Pneumonia, Lethargy |
ORPHA:36238 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Small for gestational age, Pneumonia, Overweight, Obesity, ... |
ORPHA:26793 |
Dengue Fever |
|
Skin rash, Lethargy |
ORPHA:99828 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive, Small for gestational age, Lethargy |
OMIM:609015 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Coma, Lethargy |
OMIM:251110 |
Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Meningioma, Gingival fibromatosis, Insulinoma, Intestinal carcinoid, Pituitary... |
ORPHA:652 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Lethargy |
OMIM:201450 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Ataxia, Lethargy |
OMIM:275350 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Coma, Lethargy |
OMIM:251100 |
Vici Syndrome |
|
Failure to thrive, Chronic mucocutaneous candidiasis, Albinism, Hypopigmentation of hair, Abnorma... |
OMIM:242840 |
Mitochondrial Trifunctional Protein Deficiency |
|
Coma, Failure to thrive in infancy, Tip-toe gait, Lethargy |
ORPHA:746 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Citrullinemia, Classic |
|
Failure to thrive, Ataxia, Coma, Lethargy |
OMIM:215700 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss, Hepatitis, Pituitary adenoma, Hashimoto thyroiditis, Lethargy |
ORPHA:199299 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Dystonia, Spastic ataxia, Lethargy |
OMIM:277410 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Lethargy |
OMIM:201475 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Acute pancreatitis, Maculopapular exanthema, Lethargy |
ORPHA:319218 |
Biotinidase Deficiency |
|
Lethargy, Eczematoid dermatitis, Alopecia, Ataxia, Skin rash, Conjunctivitis |
ORPHA:79241 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Ataxia, Coma, Acute pancreatitis, Hypoglycemic coma, Lethargy |
ORPHA:20 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Spastic gait, Hepatitis, Progressive cerebellar ataxia, Coma, Confusion, Lethargy |
ORPHA:415 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Abdominal obesity, Obesity, Hypopigmentation of hair, Lethargy |
ORPHA:398079 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Lethargy |
OMIM:229700 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy |
ORPHA:99832 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Torticollis, Limb dystonia, Oculogyric crisis, Blepharospasm, Lethargy |
OMIM:608643 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Confusion, Lethargy |
ORPHA:71212 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Gait disturbance, Ataxia, Lethargy |
ORPHA:395 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Delirium, Confusion, Lethargy |
OMIM:277400 |
Trichinellosis |
|
Conjunctivitis, Excessive daytime somnolence, Skin rash, Reduced consciousness/confusion, Confusi... |
ORPHA:863 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Infectious encephalitis, Pustule, Pneumonia, Ataxia, Coma, Loss of consciousness, Conf... |
ORPHA:68 |
Familial Hypoaldosteronism |
|
Failure to thrive, Lethargy |
ORPHA:427 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Abdominal obesity, Hypopigmentation of hair, Increased body weight, Lethargy |
ORPHA:398069 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Lethargy |
OMIM:212138 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Lethargy |
ORPHA:159 |
Cholera |
|
Loss of consciousness, Aspiration pneumonia, Lethargy |
ORPHA:173 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Failure to thrive, Bradykinesia, Ataxia, Gait ataxia, Lethargy |
ORPHA:254892 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Recurrent pneumonia, Lethargy |
ORPHA:1329 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy |
OMIM:608836 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Attention deficit hyperactivity disorder, Lethargy |
ORPHA:90674 |
Encephalitis Lethargica |
|
Coma, Lethargy |
ORPHA:83600 |
Isolated Complex I Deficiency |
|
Failure to thrive, Ataxia, Lethargy |
ORPHA:2609 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Failure to thrive, Ataxia, Delirium, Lethargy |
ORPHA:79282 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Posterior Urethral Valve |
|
Pyelonephritis, Lethargy |
ORPHA:93110 |
Kufor-Rakeb Syndrome |
|
Confusion, Gait disturbance, Lingual dystonia, Bradykinesia, Oculogyric crisis, Blepharospasm, Di... |
ORPHA:306674 |
Pineoblastoma |
|
Lethargy, Pinealoma, Retinoblastoma, Reduced consciousness/confusion |
ORPHA:251909 |
Marburg Hemorrhagic Fever |
|
Drowsiness, Pericarditis, Arthritis, Pancreatitis, Coma, Uveitis, Maculopapular exanthema, Skin r... |
ORPHA:99826 |
Blackfan-Diamond Anemia |
|
Malignant genitourinary tract tumor, Myelodysplasia, Small for gestational age, Low anterior hair... |
ORPHA:124 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Drowsiness, Loss of consciousness, Lethargy |
ORPHA:137675 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Ataxia, Coma, Lethargy |
OMIM:252010 |
Hereditary Fructose Intolerance |
|
Coma, Lethargy |
ORPHA:469 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Semilobar Holoprosencephaly |
|
Lethargy, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder, Aspirat... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Lethargy, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder, Aspirat... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Lethargy, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder, Aspirat... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Lethargy, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder, Aspirat... |
ORPHA:93924 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Failure to thrive, Membranous nephropathy, Pancreatitis, Coma, Glom... |
ORPHA:470 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Coma, Lethargy |
OMIM:229600 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Delirium, Confusion, Lethargy |
ORPHA:466650 |
Visceral Steatosis, Congenital |
|
Coma, Lethargy |
OMIM:228100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy |
ORPHA:226307 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Mend Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:401973 |
Eisenmenger Syndrome |
|
Bacterial endocarditis, Lethargy |
ORPHA:97214 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy |
ORPHA:447 |
Urofacial Syndrome 2 |
|
|
OMIM:615112 |
Ochoa Syndrome |
|
|
ORPHA:2704 |