Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
Dihydropteridine Reductase Deficiency |
|
Dysphagia |
ORPHA:226 |
Idiopathic Achalasia |
|
Weight loss, Malnutrition, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Shoulder girdle muscle atrophy, Dysphagia, Weakness of... |
OMIM:181400 |
Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... |
ORPHA:99976 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles, Dysphagia |
OMIM:147421 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Dysphagia |
ORPHA:85162 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Slender build, Dysphagia |
OMIM:128101 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Facial palsy, Dysphagia |
OMIM:617732 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Dystonia 32 |
|
Torticollis, Dysphagia |
OMIM:619637 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Dysphagia, Finger flexor ... |
ORPHA:63273 |
Autosomal Dominant Spastic Paraplegia Type 31 |
|
Hand muscle weakness, Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Dy... |
ORPHA:101011 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Dysphagia |
OMIM:610250 |
Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Dysphagia |
OMIM:619027 |
Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
Striatonigral Degeneration, Infantile |
|
Failure to thrive, Dysphagia |
OMIM:271930 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Limb muscle weakness, Facial palsy, Dysphagia |
OMIM:164300 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Developmental And Epileptic Encephalopathy 62 |
|
Failure to thrive, Gastrostomy tube feeding in infancy, Dysphagia |
OMIM:617938 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Dysphagia |
OMIM:611694 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Dysphagia |
OMIM:118800 |
Spinocerebellar Ataxia 37 |
|
Dysphagia |
OMIM:615945 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, High palate, Dysphagia, EMG: ... |
OMIM:609284 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia |
ORPHA:309169 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Flexion contracture, Feeding difficulties, Facial diplegia, Distal amy... |
OMIM:616287 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Autosomal Recessive Spastic Paraplegia Type 54 |
|
Foot joint contracture, High palate, Dysphagia |
ORPHA:320380 |
Spastic Ataxia 1, Autosomal Dominant |
|
Leg muscle stiffness, Dysphagia |
OMIM:108600 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Quadriceps muscle weakness... |
OMIM:620389 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... |
OMIM:617069 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome |
|
Dysphagia |
ORPHA:240112 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... |
ORPHA:141152 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Intrinsic hand muscle atrophy,... |
ORPHA:276435 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Chronic Hiccup |
|
Weight loss, Malnutrition, Abnormality of the diaphragm, Abnormal eating behavior |
ORPHA:396 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Primary Lateral Sclerosis, Adult, 1 |
|
Dysphagia |
OMIM:611637 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Huntington Disease-Like 2 |
|
Depression, Bradykinesia, Weight loss, Apathy, Inertia |
OMIM:606438 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
Central Diabetes Insipidus |
|
Depression, Failure to thrive, Lethargy, Weight loss |
ORPHA:178029 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Impaired oropharyngeal swallow response, Distal lower limb muscle weakness |
ORPHA:98916 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Perching Syndrome |
|
Dysphagia, Feeding difficulties, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies, Gastrostomy... |
OMIM:615348 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Feeding difficulties, Dysphagia,... |
OMIM:620265 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Geophagia, Esophageal web, Dysphagia, Glossitis |
ORPHA:54028 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Feeding difficulties, Myopathy, Generalized amyotrophy, Dysphagia |
OMIM:618323 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Feeding difficulties in infancy, Overweight, Z-band s... |
OMIM:619178 |
Arthrogryposis, Distal, Type 7 |
|
Arthrogryposis multiplex congenita, Feeding difficulties, Distal arthrogryposis, Dysphagia |
OMIM:158300 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Cleft pala... |
OMIM:614399 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Feeding difficulties, Dysphagia |
OMIM:255100 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Feeding difficulties, Dysphagia |
OMIM:613668 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness... |
OMIM:603511 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Flexion contracture, Cons... |
OMIM:226600 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High palate, Dysphagia... |
OMIM:201550 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Small for gestational age, Aggressive behavior, Feeding difficulties, High palate, ... |
OMIM:615075 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Dysphagia |
OMIM:613925 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Feeding difficulties, Dista... |
OMIM:617519 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Limb-girdle muscle weakness, Viral infection-induced rhabdomyolysis, Pelvic girdle muscle weaknes... |
ORPHA:329314 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Gastrointestinal dysmotility, Dysphagia |
OMIM:618637 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esoph... |
ORPHA:1018 |
Autosomal Dominant Striatal Neurodegeneration |
|
Dysphagia |
ORPHA:228169 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia |
OMIM:617070 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Dysphagia |
ORPHA:247604 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Lower limb muscle weakness, Dysphagia |
ORPHA:101001 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,... |
OMIM:158900 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Dysphagia |
OMIM:607674 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, High palate, T... |
OMIM:605637 |
Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption |
ORPHA:42642 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Feeding difficulties, Dysphagia |
OMIM:608782 |
Fazio-Londe Disease |
|
Facial diplegia, Dysphagia |
OMIM:211500 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Dysphagia |
OMIM:619025 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Esophageal varix, Hepatic failure, Arthrogryposis multiplex congenita, F... |
OMIM:232500 |
Bronchogenic Cyst |
|
Abdominal pain, Abnormal stomach morphology, Dysphagia, Abnormality of the diaphragm, Abnormal es... |
ORPHA:2357 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Synophrys, Long eyelashes, Failure to thrive in infancy |
OMIM:619064 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:26792 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Decreased muscle mass, Small intestinal dysmotility, P... |
ORPHA:298 |
Myotonic Dystrophy 1 |
|
Myotonia, Frontal balding |
OMIM:160900 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Dysphagia |
OMIM:302500 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Anal fissure, Esophageal strictu... |
ORPHA:89842 |
Striatonigral Degeneration, Childhood-Onset |
|
Dysphagia |
OMIM:617054 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Amyotrophic Lateral Sclerosis 23 |
|
Dysphagia |
OMIM:617839 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia |
ORPHA:324442 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dysphagia |
ORPHA:1171 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Feeding difficulties, Upper limb muscle weakn... |
OMIM:601462 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
Reticular Dysgenesis |
|
Failure to thrive, Diarrhea, Weight loss, Malabsorption |
ORPHA:33355 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Myotonia |
ORPHA:391307 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Feeding difficultie... |
ORPHA:171442 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Dysphagia |
OMIM:616321 |
Dystonia 16 |
|
Torticollis, Dysphagia |
ORPHA:210571 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, High palate, Arthrogryposis multiplex congenita, Dysph... |
OMIM:608930 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Dysphagia |
OMIM:614808 |
Noonan Syndrome 7 |
|
Large for gestational age, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, ... |
OMIM:613706 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Myopathy, Ty... |
OMIM:603034 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormal tendon morphology, Macroglos... |
ORPHA:85446 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Mitchell Syndrome |
|
Limb muscle weakness, Dysphagia |
OMIM:618960 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Knee flexion contracture, Facial diplegia, Di... |
OMIM:616286 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Feeding difficulties in infancy, Limb muscle weakness, High palate, Type 1 muscle f... |
OMIM:161800 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Myopathy, Dysphagia, Limb muscle we... |
OMIM:605809 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
Perry Syndrome |
|
Depression, Apathy, Weight loss |
ORPHA:178509 |
Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Ana... |
ORPHA:95706 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Feeding difficulties, High palate, ... |
OMIM:608931 |
Dystonia 12 |
|
Hypomimic face, Torticollis, Dysphagia |
OMIM:128235 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Skeletal muscle atrophy, Dysphagia |
OMIM:612069 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Myotonia, Obesity, Decreased body weight |
ORPHA:589821 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Dystonia 31 |
|
Dysphagia |
OMIM:619565 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Hypokalemic Periodic Paralysis |
|
Myotonia |
ORPHA:681 |
Developmental And Epileptic Encephalopathy 46 |
|
Limb hypertonia, Failure to thrive, Feeding difficulties, Dysphagia |
OMIM:617162 |
Spinocerebellar Ataxia 14 |
|
Facial myokymia, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:605361 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Camptodactyly, Dysphagia |
OMIM:619751 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Dysphagia |
OMIM:617892 |
Distal Myopathy, Tateyama Type |
|
Percussion-induced rapid rolling muscle contractions |
ORPHA:488650 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Myofibrillar Myopathy 10 |
|
Percussion myotonia |
OMIM:619040 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Dysphagia |
OMIM:105400 |
Spinocerebellar Ataxia Type 11 |
|
Dysphagia |
ORPHA:98767 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Myotonia, Frontal balding |
OMIM:602668 |
Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Dysphagia |
ORPHA:142 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra... |
ORPHA:280384 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph... |
ORPHA:314911 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Poor suck, Dysphagia |
OMIM:254210 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, High, narrow palate, Flexion contracture, Facial diplegia,... |
ORPHA:171433 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Dysphagia |
OMIM:616325 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Limb joint contracture, Diarrhea, Constipation, Dysphagia, Failure to th... |
ORPHA:309162 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia, Weight loss |
ORPHA:79242 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Feeding difficu... |
OMIM:255310 |
Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Celiac disease, Feeding difficulties in infancy, Cleft palate, Gastroesophageal reflux, High pala... |
ORPHA:576283 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, G... |
ORPHA:171439 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Dysphagia |
OMIM:620221 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Myoclonus, Intractable, Neonatal |
|
Poor suck, Feeding difficulties, Dysphagia, Increased variability in muscle fiber diameter, Impai... |
OMIM:617235 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappr... |
ORPHA:85278 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Dysphagia |
OMIM:607734 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Disinhibition, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Disinhibition, Dysphagia |
OMIM:616437 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysph... |
OMIM:617695 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Foot dorsiflexor weakness, Dysphagia |
OMIM:607736 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb, Low anterior hairline |
ORPHA:3101 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
Xq28 (MECP2) duplication |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thr... |
DECIPHER:45 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Feeding difficulties, Dysphagia |
OMIM:225753 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Dysphagia |
OMIM:613435 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Upper limb muscle weakness, Nasogastric tube feeding in infancy, Lower limb muscle weakness, Dysp... |
ORPHA:90117 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Achilles tendon contracture, Dysphagia |
OMIM:607225 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... |
OMIM:619461 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Feeding difficulties, High palate, Dysphagia, Weakness of facial musculature, Poor ... |
OMIM:616323 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Spasticity of facial muscles, Dysphagia |
OMIM:606353 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb muscle weakness, Dysphagia |
OMIM:603563 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dysphagia |
OMIM:261630 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Esophageal varix, Abnormal muscle glycogen content,... |
ORPHA:367 |
Dystonia-Deafness Syndrome 1 |
|
Small for gestational age, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia |
OMIM:607371 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Obesity |
ORPHA:98855 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Lower limb muscle weakness, Generalized amyotrophy, Dysphagia |
OMIM:619686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon contracture, Feeding di... |
OMIM:606612 |
Rapid-Onset Dystonia-Parkinsonism |
|
Hypomimic face, Torticollis, Dysphagia |
ORPHA:71517 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Neck joint contracture, Flexion contracture, Bilatera... |
ORPHA:209951 |
17P11.2 Microduplication Syndrome |
|
Failure to thrive, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Oral-pharyn... |
ORPHA:1713 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Limb muscle weakness, Dysphagia |
OMIM:313200 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Aggressive behavior, Dysphagia, Limb muscle weak... |
ORPHA:97229 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Obesity |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Obesity |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Obesity |
ORPHA:98853 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Dystonia 16 |
|
Retrocollis, Dysphagia |
OMIM:612067 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Dysphagia |
OMIM:617086 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Foot joint contracture, Gastroesophageal reflux, Dysphagia, Joint contractur... |
ORPHA:220402 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generalized hirsutism |
ORPHA:317 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Feeding difficult... |
ORPHA:254875 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Generalized amyotrophy, Leg muscle stiffness, Dysphagia |
ORPHA:251282 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Dysphagia |
ORPHA:284271 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:250620 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Mast Syndrome |
|
Lower limb muscle weakness, Dysphagia |
OMIM:248900 |
Schwartz-Jampel Syndrome, Type 1 |
|
Percussion myotonia, Generalized hirsutism, Long eyelashes in irregular rows |
OMIM:255800 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Gaucher Disease Type 2 |
|
Flexion contracture, Dysphagia |
ORPHA:77260 |
Abeta Amyloidosis, Iowa Type |
|
Dysphagia |
ORPHA:324708 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Weight loss, Feeding difficulties |
ORPHA:79238 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula |
OMIM:618779 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Dysphagia, Knee flexion contracture, Feeding difficulties, Distal arthrogryposis, Camptodactyly |
OMIM:618198 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Dysphagia |
OMIM:224500 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive |
OMIM:618226 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
ORPHA:682 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Dysphagia |
OMIM:500001 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Aggressive behavior, Generalized amyotrophy, Dysphagia, Limb muscle weakness |
OMIM:614707 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Paralytic ileus, Facial diplegia, Facial paralysis, Dysphagia, Failure t... |
OMIM:613559 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nasogastric tube feeding, Ragged-red muscle fibers, Dysphagia |
ORPHA:477774 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Gastrostomy tube feeding in infancy, Impulsivity, Dysphagia |
ORPHA:280195 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dysphagia |
OMIM:300857 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Hypomimic face, Torticollis, Dysphagia |
OMIM:619862 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Attention deficit hy... |
ORPHA:99013 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Hepatic failure, Dysphagia |
ORPHA:2724 |
Developmental And Epileptic Encephalopathy 72 |
|
Dysphagia |
OMIM:618374 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb hypertonia, Lower limb muscle weakness, Generalized amyotrophy, Dysphagia |
ORPHA:1177 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Barrett esophagus, Uterine leiomyosarcoma |
ORPHA:523 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Feeding difficulties, High palate, Dysphagia, Weakness of facial muscula... |
ORPHA:329336 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Weakness of facial musculature, Dysphagia |
OMIM:618088 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Lopes-Maciel-Rodan Syndrome |
|
Dysphagia, Feeding difficulties, Agitation, Bruxism, Abnormal repetitive mannerisms |
OMIM:617435 |
Hsd10 Disease |
|
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Dysphagia |
ORPHA:391417 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia |
OMIM:264470 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss |
ORPHA:83469 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Lower limb hypertonia, Aggressive behavior, Dysphagia |
OMIM:618369 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, High palate, Dysphagia |
OMIM:618578 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Facial hypotonia, Cleft soft palate |
OMIM:614526 |
Immunodeficiency 12 |
|
Esophageal stricture, Recurrent aphthous stomatitis, Decreased body weight |
OMIM:615468 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy, Dysphagia |
OMIM:608627 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Juvenile Huntington Disease |
|
Bradykinesia, Depression, Weight loss |
ORPHA:248111 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Limb hypertonia, Dysphagia, Gastrostomy tube fee... |
ORPHA:500180 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dysphagia, Feeding difficulties, High palate, Bruxism, Self-mutilation |
OMIM:619422 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Decreased body weight, Feeding difficulties, Dysphagia |
OMIM:617672 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysphagia |
OMIM:617916 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Feeding difficulties, Dysphagia, Poor suck, Limb hypertonia |
OMIM:261640 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Aggress... |
OMIM:200150 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Thenar muscle atrophy, Obesity, Dysphagia, Lower limb muscle weakness |
OMIM:604360 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2394 |
Spinocerebellar Ataxia 19 |
|
Dysphagia |
OMIM:607346 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Failure to thrive |
ORPHA:79312 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infa... |
OMIM:610883 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure to thrive, Gastrostomy tube... |
ORPHA:70472 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Familial Infantile Bilateral Striatal Necrosis |
|
Upper limb muscle weakness, Gastroesophageal reflux, Dysphagia, Failure to thrive, Lower limb mus... |
ORPHA:225154 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Axial muscle stiffness |
ORPHA:240085 |
Oromandibular Dystonia |
|
Torticollis, Weight loss, Bruxism, Dysphagia |
ORPHA:93958 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Arthrogryposis multiplex congenita, Congenital pyloric ... |
OMIM:226730 |
Dystonia 28 |
|
Torticollis, Feeding difficulties, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:589618 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Flexion contracture, Lower limb muscle weakness, Dysphagia |
ORPHA:2590 |
Laryngeal Abductor Paralysis |
|
Dysphagia |
OMIM:150260 |
Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Feeding difficulties in infancy, Distal amyotrophy, Congenital contractu... |
OMIM:607596 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
Spinocerebellar Ataxia 7 |
|
Dysphagia |
OMIM:164500 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom... |
OMIM:278000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive |
ORPHA:247525 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Dysphagia |
OMIM:616276 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dysphagia |
OMIM:618958 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Foot joint contracture, Spinal muscular atrophy, High, narrow palate, Feeding diff... |
ORPHA:166108 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Dysphag... |
ORPHA:254886 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myotonic runs |
ORPHA:353 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276580 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Obesity, Constipation, Polydipsia |
ORPHA:3157 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dysphagia |
OMIM:618230 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... |
ORPHA:397744 |
Refractory Celiac Disease |
|
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Weight loss, Prot... |
ORPHA:398063 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Feeding difficulties, Myopathy |
ORPHA:157973 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Myotonia, Cachexia, Low anterior hairline, Lo... |
ORPHA:800 |
Madras Motor Neuron Disease |
|
Distal amyotrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver |
ORPHA:69077 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysphagia, W... |
ORPHA:352447 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Abdominal pain |
ORPHA:654 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Pontocerebellar Hypoplasia Type 2 |
|
Oral-pharyngeal dysphagia, Feeding difficulties, Viral infection-induced rhabdomyolysis, Lower li... |
ORPHA:2524 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Obesity, Feeding difficulties, Ina... |
ORPHA:411511 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia |
ORPHA:42 |
Fatal Familial Insomnia |
|
Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Intestinal pseudo-obstruction, Dysphagia |
OMIM:619780 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive |
OMIM:238970 |
Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Dysphagia |
OMIM:304700 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Mel... |
ORPHA:100082 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Dysphagia |
OMIM:617493 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Facial diplegia, Gastroesop... |
OMIM:618186 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Dysphagia |
OMIM:617008 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia |
OMIM:618317 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Paronychia, Alopecia of scalp, Lethargy |
OMIM:201100 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Limb hypertonia, Distal amyotrophy, Dysphagia |
OMIM:618247 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, High p... |
OMIM:617258 |
Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Oral-pharyngeal dysphagia, Flexion contracture, Feeding difficulties... |
OMIM:618065 |
Cleft Lip And Alveolus |
|
Abnormality of masticatory muscle, Dysphagia |
ORPHA:141291 |
Leukodystrophy, Hypomyelinating, 15 |
|
Failure to thrive, Feeding difficulties, Tube feeding, Dysphagia |
OMIM:617951 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Spastic Ataxia 5, Autosomal Recessive |
|
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Dysphagia |
OMIM:614487 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Dysphagia |
OMIM:249900 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Fiber type grouping, Distal amyotrophy, Vomiting, Dysphagia |
OMIM:271245 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, Weight loss, ... |
ORPHA:53035 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Nasal regurgitation, Dysphagia |
OMIM:618098 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:927 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Myotonia |
OMIM:601559 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Protracte... |
ORPHA:100080 |
Spinocerebellar Ataxia 44 |
|
Dysphagia |
OMIM:617691 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Bowel incontinence, Constipation, High palate, Dysphagia, Distal lower limb muscle weakness, Lowe... |
OMIM:615033 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Failure to thrive |
OMIM:212140 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Dysphagia |
OMIM:221820 |
Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Cachexia, Ileus, Constipation, Self-mutilation |
ORPHA:52503 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Feeding difficulties, Dysphagia |
OMIM:615510 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Flexion contracture, Failure to thrive, High palate, Dysphagia |
OMIM:620001 |
Behr Syndrome |
|
Achilles tendon contracture, Adductor longus contractures, Hamstring contractures, Chronic consti... |
OMIM:210000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Diarrhea, Esophageal varix, Hepatocellu... |
ORPHA:264580 |
Neurofibromatosis-Noonan Syndrome |
|
Dysphagia |
ORPHA:638 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia |
OMIM:620275 |
Generalized Eruptive Keratoacanthoma |
|
Dysphagia |
ORPHA:411777 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Achilles tendon contracture, Distal upper lim... |
OMIM:302800 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
Thyrotoxic Periodic Paralysis |
|
Myotonia, Obesity, Weight loss |
ORPHA:79102 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Dysphagia |
OMIM:614229 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210200 |
Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc... |
ORPHA:1199 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Rhombencephalosynapsis |
|
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia |
ORPHA:59315 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Joint contracture |
OMIM:617664 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Limb hypertonia, Dysphagia |
OMIM:619527 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Weight loss, Abdominal pain |
ORPHA:767 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Lethargy, Failure to thrive, Trichorrhexis nodosa |
OMIM:207900 |
Adams-Oliver Syndrome 5 |
|
Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Dysphagia |
ORPHA:98805 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Weight loss, Abdo... |
ORPHA:98850 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Pontocerebellar Hypoplasia, Type 9 |
|
Macroglossia, Facial hypotonia, Dysphagia |
OMIM:615809 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy |
ORPHA:289916 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Failure to thrive |
OMIM:614857 |
Perry Syndrome |
|
Bradykinesia, Depression, Apathy, Weight loss |
OMIM:168605 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Alopecia, Failure to thrive |
OMIM:210210 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... |
OMIM:301074 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Abnormal mitochondria in muscle tissue, Distal amyotrophy, Lower limb muscle weakness, Dysphagia |
ORPHA:313772 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esopha... |
ORPHA:2538 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Facial palsy, Abnormal esophagus morphology |
ORPHA:252164 |
Acrodermatitis Enteropathica |
|
Poor appetite, Malabsorption, Anorexia, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... |
ORPHA:37 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysphagia |
OMIM:617633 |
Arts Syndrome |
|
Dysphagia |
OMIM:301835 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... |
ORPHA:275761 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
High palate, Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Upper limb muscle weakness, Lower limb hypertonia, Upper limb hypertonia, Dysphagia, Lower limb m... |
OMIM:607259 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Obesity, Feeding di... |
ORPHA:98794 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss |
ORPHA:33276 |
Spinocerebellar Ataxia 8 |
|
Dysphagia |
OMIM:608768 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
Recurrent Respiratory Papillomatosis |
|
Failure to thrive, Choking episodes, Dysphagia |
ORPHA:60032 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Volvulus, Abnormal repetitive mannerisms, Ankle flexion contracture, Dysphagia |
OMIM:617802 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux... |
ORPHA:208447 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Aggressive behavior, Velopharyngeal insufficiency, Feeding diffi... |
OMIM:300978 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Paralytic ileus, Upper limb muscle weakness, ... |
ORPHA:254930 |
Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Flexion contracture, Weight... |
ORPHA:99921 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Dysphagia |
OMIM:607236 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia |
ORPHA:240103 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Majeed Syndrome |
|
Cachexia, Malabsorption, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
Classic Galactosemia |
|
Lethargy, Depression |
ORPHA:79239 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Propionic Acidemia |
|
Lethargy, Failure to thrive |
OMIM:606054 |
Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Constipation, Decreased liver function, Dysphagia |
OMIM:614877 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Facial hypotonia, Repetitive compulsive behavior, Bruxism, Feeding difficulties, Chronic constipa... |
OMIM:300260 |
Facial Paresis, Hereditary Congenital, 3 |
|
Feeding difficulties, High palate, Facial palsy, Dysphagia |
OMIM:614744 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Malabsorption, Flexion contracture, Xerostomia, Gastroesophageal reflux, Dys... |
ORPHA:220393 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness... |
OMIM:606070 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia |
OMIM:173650 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Spinocerebellar Ataxia 17 |
|
Aggressive behavior, Dysphagia |
OMIM:607136 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties |
ORPHA:221098 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Dysphagia |
OMIM:616479 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Protruding tongue, Aggressive behavior,... |
ORPHA:72 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Esophageal stricture, Chronic diarrhea, Oral leukoplakia |
OMIM:613989 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Gastrostomy tube feeding in infancy, Abnormality of skeletal muscle fibe... |
OMIM:620278 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Dysphagia |
ORPHA:2942 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Muscle mounding, Hirsutism |
OMIM:613327 |
Spinocerebellar Ataxia 42 |
|
Dysphagia |
OMIM:616795 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Feeding difficulties, Dysphagia, Arthrogryposis multiplex ... |
OMIM:617143 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:609015 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix |
ORPHA:974 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Disinhibition, Generalized amyotrophy, Dysphagia |
ORPHA:275872 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Poor appetite, Anorexia, Hematemesis, Bowel urgency, Lack of bowel sounds, B... |
ORPHA:100075 |
Klatskin Tumor |
|
Cholangiocarcinoma, Weight loss, Abdominal pain |
ORPHA:99978 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Chronic constipation, Distal amyotrophy, Dysphagia, Lower limb muscle weakne... |
OMIM:275900 |
Cleft Lip/Palate |
|
Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Velopharyngea... |
ORPHA:199306 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Neonatal death |
OMIM:263200 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... |
ORPHA:36426 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysis, Increas... |
ORPHA:368 |
Ogden Syndrome |
|
Lethargy, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:251000 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia |
ORPHA:438216 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... |
ORPHA:537 |
Developmental And Epileptic Encephalopathy 1 |
|
Dysphagia |
OMIM:308350 |
Toxin-Mediated Infectious Botulism |
|
Constipation, Dysphagia |
ORPHA:230800 |
Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Mepan Syndrome |
|
Failure to thrive, Feeding difficulties, Dysphagia |
ORPHA:508093 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dysphagia |
ORPHA:79263 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy, Failure to thrive |
OMIM:605711 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Dysphagia |
OMIM:613077 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Depression |
ORPHA:99832 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... |
ORPHA:300605 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:27 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hig... |
OMIM:616866 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Increased body weight, Large for gestational age |
ORPHA:263455 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Weight loss, Abdominal pain |
ORPHA:449400 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia, High, narrow palate, Cleft palate, Anal atresia |
ORPHA:3242 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Dysphagia, Triceps wea... |
OMIM:619574 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Aggressive behavior, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Aggressive behavior, Dysphagia |
ORPHA:289483 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Knee flexion contracture, Weight loss, ... |
ORPHA:3208 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Gastrostomy tube feeding in infancy, Dysphagia |
ORPHA:1947 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypoplastic toenails, Lethargy |
OMIM:604377 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Achalasia, Dysphagia |
ORPHA:79107 |
Typhoid |
|
Lethargy |
ORPHA:99745 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive |
ORPHA:2169 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss |
ORPHA:1979 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... |
ORPHA:100078 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia |
OMIM:253270 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastroparesis, Quadriceps muscle weakness, ... |
ORPHA:70 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Yao Syndrome |
|
Diarrhea, Weight loss, Xerostomia, Abdominal pain |
OMIM:617321 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Snakebite Envenomation |
|
Diarrhea, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Muscle fiber necrosis,... |
ORPHA:449285 |
Mirage Syndrome |
|
Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Decreased body weight, Achalasia |
OMIM:617053 |
German Syndrome |
|
Arthrogryposis multiplex congenita, High palate, Camptodactyly of finger, Dysphagia |
ORPHA:2077 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Dysphagia |
OMIM:612379 |
Isolated Atp Synthase Deficiency |
|
Lethargy |
ORPHA:254913 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy |
OMIM:614299 |
Liposarcoma |
|
Nausea and vomiting, Weight loss, Abdominal pain |
ORPHA:69078 |
Coach Syndrome 1 |
|
Esophageal varix |
OMIM:216360 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Feeding difficulties, Small for gestational age, Dysphagia |
OMIM:618253 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Distal amyotrophy, Foot dorsiflexor weakness, Dysphagia |
ORPHA:98 |
Polymyositis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Abnormal muscle fiber morphology, Weight l... |
ORPHA:732 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Constipation, Gastroesophageal reflux, Bruxism, Stereotypical ... |
OMIM:312750 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Apathy, Weight loss |
ORPHA:465508 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Feeding difficulties in infancy, Congenital contracture, Dysphagia, Poor suck |
OMIM:277470 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Aggressive behavior, Dysphagia |
OMIM:619738 |
Cln3 Disease |
|
Left ventricular hypertrophy, Aggressive behavior, Dysphagia |
ORPHA:228346 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Bowel incontinence, Attention deficit hyperactivity diso... |
ORPHA:276198 |
Huntington Disease-Like 1 |
|
Bradykinesia, Depression, Weight loss |
ORPHA:157941 |
Myasthenia Gravis |
|
Limb muscle weakness, Facial palsy, Dysphagia |
OMIM:254200 |
4H Leukodystrophy |
|
Dysphagia |
ORPHA:289494 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Cleft palate, Anteriorly placed anus, Gastroesophageal reflux, Constipation,... |
OMIM:618494 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Abdominal pain, Feeding difficulties, Hypoglycosylation of alpha-dystroglycan, Dysphagia |
OMIM:620166 |
Cach Syndrome |
|
Flexion contracture, Feeding difficulties, Vomiting, Dysphagia, Arthrogryposis multiplex congenita |
ORPHA:135 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, High, narrow palate, Obesity, High palate, Gastroesophageal ref... |
OMIM:619312 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Feeding difficulties, Dysphagia, Poor suck |
ORPHA:98795 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, Dysphagia, Lower l... |
ORPHA:100986 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Feeding difficulties, Dysphagia |
ORPHA:89844 |
Lipoid Proteinosis |
|
Microglossia, Tongue nodules, High palate, Dysphagia |
ORPHA:530 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Dysphagia |
OMIM:615911 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Myositis, Abdominal pain, Malabsorption, Weight loss... |
ORPHA:183 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Feeding difficulties, Dysphagia |
OMIM:618233 |
Spinocerebellar Ataxia Type 6 |
|
Choking episodes, Dysphagia |
ORPHA:98758 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:607143 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Dysphagia |
OMIM:609286 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Bowel incontinence, Dysphagia |
OMIM:618868 |
Moebius Syndrome |
|
Feeding difficulties in infancy, Congenital fibrosis of extraocular muscles, Facial diplegia, Hig... |
OMIM:157900 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Choking episodes |
ORPHA:2004 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Aggressive behavior, Feeding difficulties, Chronic constipation, Self-injurious... |
OMIM:617061 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Achilles tendon contracture, Flexion contracture, Cleft palate, Fe... |
OMIM:301041 |
Pontocerebellar Hypoplasia, Type 8 |
|
Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Arthrogryposis multiplex ... |
OMIM:614961 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
Pontocerebellar Hypoplasia, Type 17 |
|
Limb hypertonia, Gastroesophageal reflux, Dysphagia |
OMIM:619909 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Tube feeding, Dysphagia |
ORPHA:79264 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Abnormality of masticatory muscle, Dysphagia |
ORPHA:98755 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Alexander Disease Type Ii |
|
Limb muscle weakness, Dysphagia |
ORPHA:363722 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Failure to thrive, Small for gestational age |
ORPHA:97362 |
Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Alopecia, Myotonia of the upper limb, Early balding, Depression, Myotonia with... |
ORPHA:273 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... |
OMIM:212750 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Maple Syrup Urine Disease |
|
Lethargy |
OMIM:248600 |
Rere-Related Neurodevelopmental Syndrome |
|
Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux, Attention deficit hyperac... |
ORPHA:494344 |
Infant Botulism |
|
Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Constipation, Dysphagia |
ORPHA:178478 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
Classic Hodgkin Lymphoma |
|
Poor appetite, Anorexia, Weight loss |
ORPHA:391 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100086 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Cleft palate, Feeding difficulties,... |
ORPHA:96170 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Bowel ... |
OMIM:254940 |
Wound Botulism |
|
Constipation, Dysphagia |
ORPHA:178475 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dysphagia |
OMIM:601338 |
Immunodeficiency 27A |
|
Diarrhea, Anorexia, Weight loss |
OMIM:209950 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
Necrotizing Enterocolitis |
|
Lethargy, Small for gestational age |
ORPHA:391673 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Gastroparesis, Intestinal pseudo-obstruction, Centrall... |
OMIM:607459 |
Wilson Disease |
|
Acute hepatic failure, Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, P... |
ORPHA:905 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... |
ORPHA:84081 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis, Esophagi... |
OMIM:618131 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Feeding difficulties, Myopathy, Dysphagia, Weakness of... |
ORPHA:98673 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Chronic constipation, Agitation, Dysphagia, Hypomimic face |
ORPHA:411602 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Aggressive behavior, Compulsive behaviors, Dysphagia |
OMIM:615157 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... |
ORPHA:319218 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Bowel incontinence, Flexion contracture, Dysphagia, Decreased body weight |
OMIM:300243 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Feeding difficulties in infancy, Esophageal atresia, Cleft palate |
OMIM:610536 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Feeding difficulties, ... |
OMIM:616801 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Failure to thrive |
OMIM:251110 |
Poliomyelitis |
|
Skeletal muscle atrophy, Anorexia, Hypoplasia of the musculature, Abnormal skeletal muscle morpho... |
ORPHA:2912 |
Chiari Malformation Type I |
|
Limb muscle weakness, Dysphagia |
OMIM:118420 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Lethargy, Small for gestational age, Obesity |
ORPHA:26793 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Dysphagia |
OMIM:614153 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive |
OMIM:275350 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Gastrointestinal dysmotility, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Feeding difficulties, Dysphagia |
OMIM:207950 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Nasal regurgitation, Feeding difficulties, Distal amyotrophy, Gastro... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Nasal regurgitation, Feeding difficulties, Distal amyotrophy, Gastro... |
ORPHA:98914 |
Birk-Barel Syndrome |
|
Feeding difficulties in infancy, High palate, Dysphagia, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Familial Hypoaldosteronism |
|
Lethargy, Failure to thrive |
ORPHA:427 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:277380 |
Thyroid Lymphoma |
|
Dysphagia |
ORPHA:97285 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysphagia |
OMIM:607694 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:2902 |
Recessive Mitochondrial Ataxia Syndrome |
|
Dysphagia |
ORPHA:94125 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myotonic runs |
ORPHA:206549 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hai... |
ORPHA:217346 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhe... |
ORPHA:3452 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Poor appetite, Hypoplasia of the musculature, Ank... |
ORPHA:2020 |
Citrullinemia Type Ii |
|
Lethargy, Mania, Decreased body mass index |
ORPHA:247585 |
Immunodeficiency 23 |
|
Esophageal stricture, Failure to thrive, High palate |
OMIM:615816 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation |
OMIM:250250 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Nasogastric tube feeding in infancy, Elbow flexion contracture, Feedin... |
ORPHA:371364 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Abnormal skeletal muscle morphology, ... |
ORPHA:167635 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Weight loss |
ORPHA:3165 |
Biotinidase Deficiency |
|
Lethargy, Alopecia |
OMIM:253260 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Overweight, Obesity, Gastroesophageal reflux, Constipation, Agitation, Dysph... |
OMIM:619229 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Feeding difficulti... |
ORPHA:354 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Feeding difficulties, Small for gestational age, Tube feeding, Dysphagia |
OMIM:619847 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Failure to thrive |
ORPHA:79284 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Feeding difficulties, Facial palsy, Dysphagia |
OMIM:614688 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Agitation, Dysphagia |
ORPHA:13 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia |
OMIM:224230 |
Dengue Fever |
|
Lethargy |
ORPHA:99828 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Increased body weight, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398069 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Esophageal varix, High palate, Anorexia |
ORPHA:394 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia |
ORPHA:2047 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Narrow palate, High palate, Dysphagia, Abnormal repetitive mann... |
OMIM:619435 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Failure to thrive, Feeding difficulties, Limb joint contracture, Dysphagia |
OMIM:617282 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Maffucci Syndrome |
|
Dysphagia |
ORPHA:163634 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Hepatic failure, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Meningococcal Meningitis |
|
Lethargy |
ORPHA:33475 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy |
OMIM:201475 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia,... |
ORPHA:2131 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Dysphagia |
OMIM:128100 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bowel incontinence, Dysphagia |
ORPHA:289560 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
Citrullinemia, Classic |
|
Lethargy, Failure to thrive |
OMIM:215700 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Nasogastric tube feeding in infancy, Dysphagia, Failure to thrive, Self-mutilation, Limb hypertonia |
OMIM:618922 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, P... |
OMIM:614162 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Intestinal malrotation, Esophageal varix, Feeding difficulties, Gastro... |
OMIM:613658 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Gastroparesis, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, L... |
OMIM:157640 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... |
OMIM:205100 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... |
ORPHA:85443 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:199299 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Proximal muscle weakness in lower limb... |
ORPHA:268 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Failure to thrive in infancy |
ORPHA:746 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Small for gestational age, Type 2 muscle fiber predominance, Gastroesoph... |
OMIM:615471 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Apathy, Weight loss |
ORPHA:20 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:71212 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Gastroesophageal reflux, Oral leukoplakia, Dysphagia |
OMIM:620040 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, High palate, Dysphagia, Increa... |
OMIM:164310 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Hypomimic face, Disinhibition, Dysphagia |
OMIM:606159 |
Imerslund-Gräsbeck Syndrome |
|
Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Hyperactivity, Torticollis, Nasogastric tube feeding in infancy, Gastroe... |
ORPHA:251061 |
Primary Lateral Sclerosis |
|
Dysphagia |
ORPHA:35689 |
Methylmalonic Aciduria, Cbla Type |
|
Lethargy, Failure to thrive |
OMIM:251100 |
Pontocerebellar Hypoplasia, Type 2B |
|
Limb hypertonia, Feeding difficulties, Poor suck, Dysphagia |
OMIM:612389 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Diarrhea, Dysphagia |
OMIM:252930 |
Tetanus |
|
Abdominal pain, Bowel incontinence, Dysphagia |
ORPHA:3299 |
Apert Syndrome |
|
Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, B... |
ORPHA:87 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, High pal... |
ORPHA:98915 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Dysphagia |
ORPHA:500144 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Kufor-Rakeb Syndrome |
|
Torticollis, Leg muscle stiffness, Aggressive behavior, Dysphagia |
OMIM:606693 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Dysp... |
ORPHA:258 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Feeding difficulties, Dysphagia |
OMIM:618325 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Depression, Weight loss |
OMIM:137440 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Dysphagia |
ORPHA:136 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia |
ORPHA:99824 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, Anal atresia |
OMIM:617925 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Dysphagia |
OMIM:609270 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dysphagia |
ORPHA:447896 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Esophageal stricture, Flexion contracture, Inflammation of the large int... |
ORPHA:2908 |
Wilson Disease |
|
Acute hepatic failure, Hepatocellular carcinoma, Abdominal distention, Esophageal varix, Vomiting... |
OMIM:277900 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Alzheimer Disease 3 |
|
Dysphagia |
OMIM:607822 |
Caroli Syndrome |
|
Cholangiocarcinoma, Abdominal pain, Hematemesis, Esophageal varix, Abdominal rigidity, Melena, He... |
ORPHA:480520 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Attention defi... |
OMIM:614083 |
Gaucher Disease, Type Ii |
|
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia, Failure to thrive |
OMIM:230900 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... |
ORPHA:100085 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:704 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Leishmaniasis |
|
Anorexia, Weight loss |
ORPHA:507 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive, Dysphagia |
OMIM:312080 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Dysphagia, Hepatic ... |
OMIM:607426 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Feeding difficulties, Dysphagia |
OMIM:617669 |
Hardikar Syndrome |
|
Failure to thrive, Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hem... |
OMIM:301068 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Reye syndrome-like episodes, Rhabdomyolysis, Feeding d... |
ORPHA:26791 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Esophageal ulceration, Vomiting |
OMIM:176690 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, A... |
OMIM:619708 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:395 |
Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Episodic abdomin... |
ORPHA:97282 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Aggressive behavior, Dysphagia |
ORPHA:488627 |
Non-Functioning Paraganglioma |
|
Weight loss, Nausea, Episodic abdominal pain |
ORPHA:94080 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Attention defic... |
OMIM:301030 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Lethargy |
OMIM:608836 |
Aredyld Syndrome |
|
Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Anorectal anomaly, Tracheoesophageal fistula, Hepatic failure... |
ORPHA:1775 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Mohr-Tranebjaerg Syndrome |
|
Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:52368 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Con... |
ORPHA:813 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Hypoplastic nipples, Small nail, Lethargy, Failure to thrive |
OMIM:614866 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Failure to thrive, Depression |
ORPHA:90674 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
Trisomy 18 |
|
Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Esophageal atresia, Narrow pa... |
ORPHA:3380 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Depression, Bradykinesia, Lethargy, Failure to thrive |
ORPHA:254892 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Large for gestational age, Esophageal atresia, Cle... |
OMIM:229850 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Diarrhea, Weight loss, Agitation |
ORPHA:424 |
Late-Infantile/Juvenile Krabbe Disease |
|
Upper limb muscle weakness, Neuromuscular dysphagia, Attention deficit hyperactivity disorder, Fe... |
ORPHA:206443 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Hyperlysinemia |
|
Hyperactivity, Feeding difficulties, Gastroesophageal reflux, High palate, Vomiting, Dysphagia, F... |
ORPHA:2203 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Constipation, Failure to thrive, Vomiting, Dysphagia |
OMIM:308940 |
Vacterl With Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Dysphagia, Protruding tongue |
OMIM:230600 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Feeding difficulties, Camptodactyly, Dysphagia |
OMIM:619576 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy, Failure to thrive |
OMIM:620233 |
Spinocerebellar Ataxia 10 |
|
Dysphagia |
OMIM:603516 |
Progressive Supranuclear Palsy |
|
Impulsivity, Dysphagia |
ORPHA:683 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Dysphagia |
OMIM:211530 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Feeding difficulties in infancy, Flexion contracture, Agitation, Dysphagia |
ORPHA:2148 |
Distal Deletion 12Q |
|
Hyperactivity, Failure to thrive in infancy, High, narrow palate, Esophageal atresia, Pyloric ste... |
ORPHA:96149 |
Biotinidase Deficiency |
|
Lethargy, Alopecia |
ORPHA:79241 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Anal stenosis, Flexion contracture, Constipation, Gastroesophageal reflux, Attention deficit hype... |
OMIM:620029 |
Maternal Phenylketonuria |
|
Esophageal atresia, Hyperactivity, High palate |
ORPHA:2209 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Distal amyotrophy, Dysphagia |
ORPHA:352641 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,... |
ORPHA:143 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dysphagia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dysphagia |
ORPHA:276241 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
Opitz Gbbb Syndrome |
|
Rectourethral fistula, Cleft palate, Gastroesophageal reflux, High palate, Dysphagia, Anal atresia |
OMIM:300000 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Dysphagia, Arthrogryposis multip... |
OMIM:617301 |
Spinocerebellar Ataxia 6 |
|
Nausea and vomiting, Dysphagia |
OMIM:183086 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Dysphagia |
ORPHA:412217 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Myositis, Abdominal pain, Weight loss, Constipation, Dys... |
ORPHA:93672 |
Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2609 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Gastroesophageal reflux, Hepatic hemangioma, Dysphagia |
ORPHA:73230 |
Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Distal amyotrophy, Dysphagia |
ORPHA:412057 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix, Hypomimic face |
ORPHA:309854 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Nasogastric tube feeding, Feeding difficulties, Dysphagia |
ORPHA:485421 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Nasogastric tube feeding, Hypomimic face, Poor suck, Dysphagia |
ORPHA:225147 |
Primary Progressive Freezing Gait |
|
Restless legs, Dysphagia |
ORPHA:75567 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diar... |
ORPHA:37042 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Weight loss, Episodic abdominal... |
ORPHA:370348 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
Parkinson Disease, Late-Onset |
|
Constipation, Dysphagia |
OMIM:168600 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Distal lower limb muscle weakness, Neuromuscular dysphagia |
ORPHA:240094 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Aggressive behavior, Diarrhea, Achilles tendon contracture, Elbow fl... |
OMIM:252940 |
Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Shoulder girdle muscle weakn... |
ORPHA:206436 |
Antisynthetase Syndrome |
|
Myositis, Xerostomia, Dysphagia |
ORPHA:81 |
Gaucher Disease, Perinatal Lethal |
|
Dysphagia, Decreased body weight, Neonatal death, Arthrogryposis multiplex congenita, Hepatic fai... |
OMIM:608013 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... |
OMIM:619482 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Feeding difficulties, Contractures of the large joints, High palate, Dysphagia, Failure to thrive... |
OMIM:617527 |
Machado-Joseph Disease |
|
Distal amyotrophy, Dysphagia |
OMIM:109150 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia, Dysphagia |
OMIM:615919 |
Spinocerebellar Ataxia 2 |
|
Distal amyotrophy, Dysphagia |
OMIM:183090 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss |
ORPHA:79430 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysphagia |
OMIM:614381 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Weight loss, High palate, Attention deficit hyperactivi... |
ORPHA:251071 |
Giant Cell Arteritis |
|
Anorexia, Abdominal pain, Weight loss, Gastrointestinal infarctions, Hepatic failure, Glossitis |
ORPHA:397 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Failure to thrive |
OMIM:277400 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Dysphagia |
ORPHA:98768 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy |
OMIM:618321 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Dysphagia, Lower limb mu... |
ORPHA:2822 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Congenital Disorder Of Deglycosylation 2 |
|
Macroglossia, High palate, Hamartoma of tongue, Dysphagia |
OMIM:619775 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Distal amyotrophy, Dysphagia |
OMIM:164400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
Juvenile Sialidosis Type 2 |
|
Dysphagia, Protruding tongue |
ORPHA:93399 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Camptodactyly of finger, Feeding difficulties, High palate, Attention deficit hyper... |
ORPHA:261349 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dysphagia |
ORPHA:276244 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Agitation, Vomiting, Oral aversion |
ORPHA:134 |
Congenital Tracheomalacia |
|
Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Gastroesophageal reflux, Fai... |
ORPHA:95430 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Feeding difficulties, Agitation, Esophageal varix, Abdominal pain |
OMIM:615688 |
Postencephalitic Parkinsonism |
|
Vomiting, Dysphagia |
ORPHA:97349 |
Wolfram Syndrome 1 |
|
Dysphagia |
OMIM:222300 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Impulsivity, Axial muscle stiffness |
ORPHA:240071 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Constipation, Vomiting, Failure to thrive |
ORPHA:361 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Bowel incontinence, Feeding difficulties, Chronic constipation, Dysphagi... |
ORPHA:496641 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Dysphagia |
ORPHA:100026 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Small for gestational age, Tracheoesophageal fistula, Attention deficit hyper... |
OMIM:227646 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Constipation, Gastroesoph... |
ORPHA:466950 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dysphagia |
ORPHA:64753 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure |
ORPHA:97287 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Esophageal varix, Feeding difficulti... |
ORPHA:731 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Multiple System Atrophy, Cerebellar Type |
|
Constipation, Neuromuscular dysphagia |
ORPHA:227510 |
Neuhauser Syndrome |
|
High palate, Bifid uvula, Dysphagia |
OMIM:249310 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Abnormal temper tantrums |
ORPHA:2072 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Weight loss |
ORPHA:3226 |
Spinocerebellar Ataxia Type 7 |
|
Restless legs, Failure to thrive, Feeding difficulties, Dysphagia |
ORPHA:94147 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Diarrhea, Weight loss |
ORPHA:99819 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Small for gestational age, Facial hypotonia, Oral-pharyngeal dyspha... |
ORPHA:506358 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, High palate, D... |
ORPHA:319182 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Failure to thrive |
OMIM:617156 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Weight loss, Abdominal pain |
ORPHA:729 |
Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Diarrhea, Failure to thrive, Abdominal pain |
OMIM:256700 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Gastrointestinal dysmotility, Obesity, Feeding difficulties, Self-injurious ... |
ORPHA:466943 |
Acute Promyelocytic Leukemia |
|
Anorexia, Abdominal pain, Weight loss, Addictive alcohol use, Stomatitis |
ORPHA:520 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Feeding difficulties in ... |
ORPHA:570 |
Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue, Flexion contracture, Feeding difficulties, Abnormality of masticatory muscle, ... |
ORPHA:98889 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Large for gestational age, Feeding difficulties, Constipation, Dysphagia, Hepato... |
ORPHA:254519 |
Deeah Syndrome |
|
Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Dec... |
OMIM:619004 |
Arima Syndrome |
|
Polydipsia, Esophageal varix |
OMIM:243910 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, High palate |
ORPHA:85293 |
Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Vomiting, Dysphagia |
OMIM:300322 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Acute rhabdomyolysis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Dysphagia, E... |
ORPHA:480864 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Weight loss, Abdominal pain |
ORPHA:54251 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short hard palate, Anorexia, Skeletal muscle atrophy |
ORPHA:1969 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Cachexia, Abnormal large intestine morphology, Nar... |
ORPHA:109 |
Spinocerebellar Ataxia Type 42 |
|
Dysphagia |
ORPHA:458803 |
Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula |
OMIM:101200 |
Pearson Marrow-Pancreas Syndrome |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:557000 |
Miller Fisher Syndrome |
|
Vomiting, Facial palsy, Dysphagia |
ORPHA:98919 |
Addison Disease |
|
Nausea and vomiting, Salt craving, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight los... |
ORPHA:85138 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight, Hypertrichosis |
ORPHA:1501 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, High palate, Generalized amyotrophy, Dysphagia, Limb hypertonia |
ORPHA:572798 |
Alexander Disease |
|
Nausea and vomiting, Facial palsy, Bowel incontinence, Self-injurious behavior, Constipation, Hig... |
ORPHA:58 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Gastroesophageal reflux, Dysphagia, Abn... |
ORPHA:447997 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Diastasis recti, Esophageal atresia, Tracheoesophageal fistula, Cleft pal... |
OMIM:265380 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Feeding difficulties in infancy, Lower limb amyotrophy, Neuromuscular dysphagia |
ORPHA:466722 |
Spinocerebellar Ataxia Type 8 |
|
Dysphagia |
ORPHA:98760 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Weight loss, Abdominal pain |
ORPHA:33577 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Reactive Arthritis |
|
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... |
ORPHA:29207 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Distal amyotrophy, Constipation, Dysphagia |
ORPHA:101000 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive |
ORPHA:415 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Weight loss, Abdominal pain |
ORPHA:188 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Dysphagia, Hamstring contractures, Facial myokymia, Nasogastric tube feeding |
ORPHA:139396 |
Cholera |
|
Lethargy |
ORPHA:173 |
Parkinsonian-Pyramidal Syndrome |
|
Hypomimic face, Dysphagia |
ORPHA:171695 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Feeding difficulties, Impulsivity, Dysphagia |
OMIM:610217 |
Trichinellosis |
|
Lethargy, Apathy |
ORPHA:863 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Dysphagia, Fe... |
ORPHA:506 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Feeding difficulties in infancy, Tracheoesophageal fistula, Clef... |
ORPHA:2745 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Protruding tongue, High, narrow palate, Feeding difficulties, Macroglossia, High palate, Dysphagi... |
OMIM:214100 |
Plaa-Associated Neurodevelopmental Disorder |
|
Feeding difficulties, Contractures of the large joints, High palate, Impaired oropharyngeal swall... |
ORPHA:521426 |
Medulloblastoma |
|
Lethargy |
ORPHA:616 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy, Failure to thrive |
ORPHA:79282 |
Glycerol Kinase Deficiency |
|
Lethargy, Small for gestational age |
OMIM:307030 |
Myasthenia Gravis |
|
Myositis, Dysphagia |
ORPHA:589 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Aggressive behavior, Phonic tics, Cleft palate, Feeding difficulties, High palate, Attention defi... |
OMIM:616973 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, High, narrow palate, Abnormal repetitive mannerisms, Chronic diarrhe... |
OMIM:615873 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Feeding difficulties, Lower limb hypertonia, Left ventricular hypertrophy, Failure t... |
OMIM:619487 |
Parkinson Disease 1, Autosomal Dominant |
|
Dysphagia |
OMIM:168601 |
Alobar Holoprosencephaly |
|
Flexion contracture, Cleft palate, Feeding difficulties, Gastroesophageal reflux, High palate, Vo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Flexion contracture, Cleft palate, Feeding difficulties, Gastroesophageal reflux, High palate, Vo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Flexion contracture, Cleft palate, Feeding difficulties, Gastroesophageal reflux, High palate, Vo... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Flexion contracture, Cleft palate, Feeding difficulties, Gastroesophageal reflux, High palate, Vo... |
ORPHA:220386 |
Neuroferritinopathy |
|
Hypomimic face, Dysphagia |
ORPHA:157846 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Weight loss, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:91139 |
Niemann-Pick Disease, Type C1 |
|
Fatal liver failure in infancy, Dysphagia |
OMIM:257220 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Malabsorption, Aggressive behavior, Hypersexuality, Flexion contracture, Macroglos... |
ORPHA:581 |
16Q24.3 Microdeletion Syndrome |
|
Feeding difficulties, High palate, Dysphagia |
ORPHA:261250 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Malnutrition, Flexion contracture, Gastrointestinal inflamm... |
ORPHA:79408 |
Trisomy 10P |
|
Decreased muscle mass, Small for gestational age, Gastroesophageal reflux, High palate, Rectovagi... |
ORPHA:171929 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Hypomimic face, Dysphagia |
ORPHA:247234 |
3-Methylglutaconic Aciduria, Type Viii |
|
Feeding difficulties, Dysphagia, Neonatal death, Failure to thrive, Poor suck |
OMIM:617248 |
Good Syndrome |
|
Diarrhea, Dysphagia |
ORPHA:169105 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Anal stenosis, Cachexia, Rhabdomyosarcoma, Anorectal anomaly, Chronic di... |
ORPHA:647 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Dysphagia |
ORPHA:329308 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy, Failure to thrive |
OMIM:252010 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Polydipsia |
ORPHA:99880 |
Microsporidiosis |
|
Myositis, Anorexia, Abdominal pain, Cachexia, Peritonitis, Chronic diarrhea, Weight loss, Vomitin... |
ORPHA:2552 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Chronic constipation, Truncal obesity, Gastroesop... |
ORPHA:404448 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive |
ORPHA:137675 |
Friedreich Ataxia |
|
Hand muscle atrophy, Dysphagia |
ORPHA:95 |
Lujo Hemorrhagic Fever |
|
Odynophagia, Fulminant hepatitis, Diarrhea, Vomiting, Abdominal cramps, Dysphagia, Nausea |
ORPHA:319213 |
Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
Parkinson Disease 20, Early-Onset |
|
Leg muscle stiffness, Dysphagia |
OMIM:615530 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Cleft soft palate, Impulsivity, Flexion contracture, Esophageal varix, Bruxism, ... |
OMIM:619503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Feeding difficulties in infancy, Proximal muscle weakness in lower limbs, High pal... |
ORPHA:280633 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdomina... |
ORPHA:3260 |
Developmental And Epileptic Encephalopathy 100 |
|
Protruding tongue, Bilateral camptodactyly, Elbow flexion contracture, Chronic constipation, Gast... |
OMIM:619777 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Dysphagia, Lower limb mu... |
ORPHA:845 |
Tropical Pancreatitis |
|
Malnutrition, Vomiting, Nausea, Weight loss |
ORPHA:103918 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Bowel incontinence, Glycogen accumulation in muscle fiber lysosomes, Feeding di... |
ORPHA:365 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue... |
ORPHA:2388 |
Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Salt craving, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation,... |
ORPHA:95409 |
Poems Syndrome |
|
Weight loss, Leukonychia, Hypertrichosis |
ORPHA:2905 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Cleft palate, Oral-pharyngeal dysphagia |
OMIM:619184 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Feeding difficulties, Gastroesophageal reflux, High palate, Dysphagia |
OMIM:617913 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties, Dysphagia |
ORPHA:25 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Lethargy, Low anterior hairline |
ORPHA:124 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Myositis, Anorexia, Abdominal pain, Malabsorpti... |
ORPHA:117 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Feeding difficulties, W... |
OMIM:615846 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Feeding difficulties in infancy, Pyloric stenosis, Polyphagia, Obesity, ... |
ORPHA:1606 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia |
OMIM:206900 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Esophageal stricture, Malnutrition, Gastrointestinal inflammation, Constipation, Vomiting, Failur... |
ORPHA:79404 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Dysphagia, Hepatic failure, Failure to thrive, Episodic vomiting |
ORPHA:255210 |
Vici Syndrome |
|
Cleft palate, Myopathy, High palate, Dysphagia, Left ventricular hypertrophy, Failure to thrive, ... |
OMIM:242840 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Nausea, Episodic abdominal pain |
ORPHA:276621 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Rhabdomyolysis, Acute rhabdomyolysis, Oral-pharyngeal dysphagia |
OMIM:616878 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Compulsive behaviors, Dysphagia |
ORPHA:93256 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Cleft soft palate, Failure to thrive in infancy, Aggressive behavior, ... |
ORPHA:268261 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen... |
ORPHA:652 |
Khan-Khan-Katsanis Syndrome |
|
Joint contracture, Failure to thrive, Feeding difficulties, Dysphagia |
OMIM:618460 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the diaphragm, Weight loss |
ORPHA:400 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ... |
ORPHA:2298 |
Vater/Vacterl Association |
|
Esophageal atresia, Failure to thrive, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Faundes-Banka Syndrome |
|
Feeding difficulties in infancy, Cleft palate, Chronic constipation, Gastroesophageal reflux, Dys... |
OMIM:619376 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Rat-Bite Fever |
|
Diarrhea, Tendonitis, Weight loss, Vomiting, Parotitis |
ORPHA:31205 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Decreased muscle mass, Feeding difficulties in infancy, Phonic tics, Myopathy, Dys... |
OMIM:234200 |
Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Facial hypotonia, Oral-pharyngeal dysphagia, Intrinsic hand muscle atrophy, Decreas... |
OMIM:615273 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Sturge-Weber Syndrome |
|
Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:3205 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy |
ORPHA:226307 |
Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive |
OMIM:229600 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy |
ORPHA:68 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, My... |
OMIM:219800 |
Occipital Horn Syndrome |
|
Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi... |
ORPHA:198 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Distal amyotrophy, Dysphagia |
OMIM:606002 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Anorexia, Vomiting, Dysphagia, Nausea |
ORPHA:297 |
Alveolar Echinococcosis |
|
Abdominal pain, Weight loss, Abnormal skeletal muscle morphology, Vomiting, Decreased liver funct... |
ORPHA:284 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Dysphagia |
ORPHA:64744 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Oral-pharyngeal dysphagia, High, narrow palate, Constipation, Gastroesophageal reflux, Attention ... |
OMIM:300966 |
Neuroleptic Malignant Syndrome |
|
Rhabdomyolysis, Agitation, Vomiting, Dysphagia, Nausea, Nasogastric tube feeding |
ORPHA:94093 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Dysphagia |
ORPHA:268882 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Weight loss |
ORPHA:139402 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Facial hypotonia, Limb joint contracture, Achilles tendon contracture,... |
ORPHA:404454 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Dysphagia |
OMIM:254900 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Anorexia, Abdominal pain, W... |
ORPHA:1304 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Lysinuric Protein Intolerance |
|
Lethargy, Failure to thrive |
ORPHA:470 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Malt Lymphoma |
|
Nausea and vomiting, Weight loss, Constipation, Abdominal pain |
ORPHA:52417 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Malnutrition, Constipation, Dysphagia |
ORPHA:99027 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Weight loss, Constipation |
ORPHA:49041 |
Pearson Syndrome |
|
Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato... |
ORPHA:699 |
Arboleda-Tham Syndrome |
|
Intestinal malrotation, Lower limb amyotrophy, Cleft palate, Feeding difficulties, Upper limb amy... |
OMIM:616268 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight ... |
ORPHA:900 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Igg4-Related Pachymeningitis |
|
Lower limb muscle weakness, Parotitis, Dysphagia |
ORPHA:449427 |
Pyomyositis |
|
Myositis, Weight loss |
ORPHA:764 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Nausea, Episodic abdominal pain |
ORPHA:29072 |
Alport Syndrome |
|
Vomiting, Dysphagia |
ORPHA:63 |
Adult-Onset Dystonia-Parkinsonism |
|
Hypomimic face, Dysphagia |
ORPHA:199351 |
Postinfectious Vasculitis |
|
Anorexia, Abdominal pain, Weight loss, Gastrointestinal inflammation, Unusual gastrointestinal in... |
ORPHA:48435 |
Degcags Syndrome |
|
Diaphragmatic eventration, Jejunal atresia, Small for gestational age, Oral-pharyngeal dysphagia,... |
OMIM:619488 |
Renal Nutcracker Syndrome |
|
Weight loss, Nausea, Abdominal pain |
ORPHA:71273 |
Mucolipidosis Type Ii |
|
Weight loss, Dry hair, White hair, Fine hair |
ORPHA:576 |
Dyskeratosis Congenita, X-Linked |
|
Esophageal stricture, Oral leukoplakia, Anal mucosal leukoplakia |
OMIM:305000 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux, Weakness of facial musculature, Dysphagia |
OMIM:617330 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Weight loss, Anorexia, Abnormal salivary gland morphology |
OMIM:181000 |
Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Failure to thrive in infancy, Anteriorly placed anus, Macroglossia, High p... |
ORPHA:798 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Polydipsia, Weight loss, Abdominal pain |
ORPHA:35687 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Weight loss, Enlargement of parotid gland, Abnormality of the extraocular m... |
ORPHA:79078 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Full Nf2-Related Schwannomatosis |
|
Wrist drop, Facial palsy, Foot dorsiflexor weakness, Dysphagia |
ORPHA:637 |
Charge Syndrome |
|
Anal stenosis, Facial palsy, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding... |
OMIM:214800 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure to thrive... |
OMIM:606721 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Q Fever |
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Anorexia, Weight loss |
ORPHA:781 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Abdominal distention, Esophageal varix, Gastroesophageal reflux, Neonatal death, Failure to thrive |
OMIM:619534 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Aggressive behavior, Feeding difficulties in infancy, Self-mutilation, S... |
OMIM:607872 |
Dermatomyositis |
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Gastrointestinal stroma tumor, Feeding difficulties in infancy, Inflammatory myopathy, Weight loss |
ORPHA:221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Small for gestational age, Feeding difficulties, Anteriorly placed anus, Vomiting, Dysphagia, Lef... |
OMIM:220111 |
Supranuclear Palsy, Progressive, 2 |
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Retrocollis, Dysphagia |
OMIM:609454 |
Kikuchi-Fujimoto Disease |
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Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:50918 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Feeding difficulties, Dysphagia |
OMIM:618367 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Arthrogryposis multiplex congenita, Lower-limb joint contracture, Failure to thrive, Weight loss |
ORPHA:99885 |
Marburg Hemorrhagic Fever |
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Lethargy |
ORPHA:99826 |
Xfe Progeroid Syndrome |
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Failure to thrive, Cachexia |
OMIM:610965 |
Genitopatellar Syndrome |
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Hip contracture, Anal stenosis, Malrotation of small bowel, Feeding difficulties, Anteriorly plac... |
OMIM:606170 |
Ogden Syndrome |
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Torticollis, Diarrhea, Narrow palate, Feeding difficulties, High palate, Vomiting, Dysphagia, Abn... |
OMIM:300855 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Esophageal atresia, Abdominal distention, Ectopic anus, Bifid tongue, Anal atresia |
ORPHA:93271 |
Niemann-Pick Disease Type C |
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Aggressive behavior, Aplasia/Hypoplasia of the abdominal wall musculature, Feeding difficulties, ... |
ORPHA:646 |
Exercise-Induced Malignant Hyperthermia |
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Lethargy |
ORPHA:466650 |
Riddle Syndrome |
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Diarrhea, Weight loss, Abdominal pain |
ORPHA:420741 |
8Q24.3 Microdeletion Syndrome |
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Gastrointestinal hemorrhage, Hyperactivity, Small for gestational age, Feeding difficulties in in... |
ORPHA:508488 |
Familial Thrombocytosis |
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Weight loss |
ORPHA:71493 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Diarrhea, Increased b... |
ORPHA:99889 |
Joubert Syndrome 21 |
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Dysphagia |
OMIM:615636 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Weight loss |
OMIM:613673 |
Osteogenesis Imperfecta |
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Intestinal obstruction, Small for gestational age, Flexion contracture, Constipation, Dysphagia |
ORPHA:666 |
Supranuclear Palsy, Progressive, 1 |
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Retrocollis, Dysphagia |
OMIM:601104 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy... |
ORPHA:500150 |
Stickler Syndrome |
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Skeletal muscle atrophy, Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, ... |
ORPHA:828 |
Granulomatosis With Polyangiitis |
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Weight loss |
OMIM:608710 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
Marfan Syndrome |
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Skeletal muscle atrophy, Cachexia, High, narrow palate, Cleft palate, Attention deficit hyperacti... |
ORPHA:558 |
Multiple Osteochondromas |
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Intestinal obstruction, Dysphagia |
ORPHA:321 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Flexion contracture, Weight loss |
ORPHA:85408 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Feeding difficulties in infancy, Slend... |
ORPHA:1328 |
Cockayne Syndrome |
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Skeletal muscle atrophy, Cachexia, Feeding difficulties in infancy, Contractures of the large joi... |
ORPHA:191 |
Gaucher Disease |
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Feeding difficulties in infancy, Abdominal pain, Arthrogryposis multiplex congenita, Dysphagia |
ORPHA:355 |
Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopecia, Severe failure... |
ORPHA:740 |
Nocardiosis |
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Peritonitis, Vomiting, Anorexia, Weight loss |
ORPHA:31204 |
Wiedemann-Rautenstrauch Syndrome |
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Small for gestational age, Flexion contracture, Feeding difficulties, Generalized amyotrophy, Dys... |
OMIM:264090 |
Tsh-Secreting Pituitary Adenoma |
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Abnormal hair quantity, Weight loss |
ORPHA:91347 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Cachexia |
ORPHA:220295 |
Eisenmenger Syndrome |
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Lethargy |
ORPHA:97214 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Impulsivity, Feeding difficulties, Dysphagia, Self-mutilation |
ORPHA:642 |
Paroxysmal Nocturnal Hemoglobinuria |
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Odynophagia, Esophageal spasms, Episodic abdominal pain, Dysphagia |
ORPHA:447 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Frontal balding, Failure to thrive, Hirsutism, Weight loss |
ORPHA:90794 |
Sarcoidosis |
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Abnormality of the gastrointestinal tract, Facial palsy, Weight loss, Enlargement of parotid glan... |
ORPHA:797 |
Mowat-Wilson Syndrome |
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Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... |
ORPHA:2152 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Stereotypical hand wringing |
ORPHA:438213 |
Igg4-Related Kidney Disease |
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Sialadenitis, Weight loss, Decreased liver function, Abdominal pain |
ORPHA:449395 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Flexion contractu... |
ORPHA:261537 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal salivary gland morphology, Xerostomia, Bifid uvula, Dysphagia |
ORPHA:2363 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Feeding difficulties, High palate, Attention deficit hyperactivity disorder, Dysphagia, Abnormal ... |
OMIM:619522 |
African Trypanosomiasis |
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Alopecia, Apathy, Weight loss |
ORPHA:3385 |
Pulmonary Alveolar Microlithiasis |
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Weight loss |
ORPHA:60025 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Flexion contractu... |
ORPHA:261552 |
Primary Fanconi Renotubular Syndrome |
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Weight loss |
ORPHA:3337 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Weight loss, Anorexia, Abdominal pain |
ORPHA:91500 |
Alström Syndrome |
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Esophageal varix, Obesity, Truncal obesity, Gastroesophageal reflux, Hepatic failure, Polyphagia |
ORPHA:64 |
Norrie Disease |
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Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... |
ORPHA:649 |
Proteus Syndrome |
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Cachexia, Abnormality of the nail, Generalized hirsutism |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
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Myocardial calcification, Malnutrition, Cachexia |
ORPHA:75565 |
Goodpasture Syndrome |
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Weight loss |
OMIM:233450 |