| High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
| Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... |
OMIM:160800 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... |
ORPHA:684 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... |
ORPHA:2198 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Idiopathic Achalasia |
|
Weight loss, Dysphagia, Gastroesophageal reflux, Malnutrition |
ORPHA:930 |
| Dihydropteridine Reductase Deficiency |
|
Dysphagia |
ORPHA:226 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Obesity, Nausea and vomiting, Feeding difficulties in... |
ORPHA:99976 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting |
ORPHA:99977 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Weight loss, Anorexia |
ORPHA:52416 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy, Dysphagia |
OMIM:147421 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Dysphagia, Skeletal muscle atrophy |
ORPHA:85162 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Eosinophilic microabscess formation in the ... |
ORPHA:411696 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia |
OMIM:168300 |
| Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis, Failure to thrive |
OMIM:610247 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal ga... |
ORPHA:1876 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Slender build, Dysphagia, Torticollis |
OMIM:128101 |
| Aids Wasting Syndrome |
|
Skeletal muscle atrophy, Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Facial palsy, Nasal regurgitation, Dysphagia |
OMIM:617732 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Dystonia 32 |
|
Dysphagia, Torticollis |
OMIM:619637 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Autosomal Dominant Spastic Paraplegia Type 31 |
|
Proximal muscle weakness in lower limbs, Dysphagia, Proximal lower limb amyotrophy, Hand muscle w... |
ORPHA:101011 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Distal amyotrophy, Dysphagia, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:610250 |
| Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
| Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Spastic Paraplegia 83, Autosomal Recessive |
|
Dysphagia |
OMIM:619027 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Dysphagia, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:164300 |
| Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Myotonia, Percussion myotonia |
OMIM:608390 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis, Neonatal death |
OMIM:619817 |
| Striatonigral Degeneration, Infantile |
|
Dysphagia, Failure to thrive |
OMIM:271930 |
| Developmental And Epileptic Encephalopathy 62 |
|
Dysphagia, Failure to thrive, Gastrostomy tube feeding in infancy |
OMIM:617938 |
| Dystonia With Cerebellar Atrophy |
|
Dysphagia, Torticollis |
OMIM:611694 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Spinocerebellar Ataxia 37 |
|
Dysphagia |
OMIM:615945 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Dysphagia, Torticollis |
OMIM:118800 |
| Intestinal Dysmotility Syndrome |
|
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... |
OMIM:620045 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Spastic Paraplegia 90B, Autosomal Recessive |
|
Gastroesophageal reflux, Dysphagia, Failure to thrive, Joint contracture |
OMIM:620417 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Isolated Corpus Callosum Agenesis |
|
Dysphagia |
ORPHA:200 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... |
ORPHA:99734 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... |
OMIM:609284 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Hirschsprung Disease |
|
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... |
ORPHA:388 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Dysphagia, Upper limb muscle weakness |
ORPHA:309169 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Ragged-red muscle fibe... |
OMIM:613662 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myotonia |
OMIM:613345 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Oral-pharyngeal dysphagia, Facial diplegia, Neonatal death, Distal arthrogrypo... |
OMIM:616287 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Autosomal Recessive Spastic Paraplegia Type 54 |
|
High palate, Foot joint contracture, Dysphagia |
ORPHA:320380 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Dysphagia, Leg muscle stiffness |
OMIM:108600 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric tube feeding in infan... |
ORPHA:141152 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... |
ORPHA:160148 |
| Spastic Paraplegia 90A, Autosomal Dominant |
|
Gastroesophageal reflux, Dysphagia, Failure to thrive |
OMIM:620416 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Scapular wingi... |
OMIM:617069 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome |
|
Dysphagia |
ORPHA:240112 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss, Abnormal eating behavior, Malnutrition |
ORPHA:396 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Oral-pharyngeal dysphagia, Anorexia |
ORPHA:100083 |
| Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Cachexia, Abdominal distention, Steatorrhea, ... |
ORPHA:75233 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Distal lower limb muscle weakness, Impaired oropharyngeal swallow response |
ORPHA:98916 |
| Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... |
ORPHA:2494 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Dysphagia |
OMIM:611637 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Huntington Disease-Like 2 |
|
Depression, Apathy, Weight loss, Inertia, Bradykinesia |
OMIM:606438 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, Distal l... |
ORPHA:98897 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... |
ORPHA:26790 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Knee flexion contracture, Dysphagia, Tongue atrophy, Low... |
ORPHA:496689 |
| Central Diabetes Insipidus |
|
Depression, Lethargy, Weight loss, Failure to thrive |
ORPHA:178029 |
| Perching Syndrome |
|
Joint contracture, Camptodactyly, High palate, Dysphagia, Feeding difficulties |
OMIM:617055 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Myofibrillar myopathy, Gastrostomy tube feeding in infancy, Flexion contracture,... |
OMIM:615348 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... |
OMIM:277320 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Gastroesophageal reflux, Failure to thrive, Campt... |
OMIM:614399 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Nausea and vomiting, Esophageal varix |
ORPHA:75234 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Esophageal web, Abdominal pain, Glossitis, Dysphagia, Geophagia, Poor appetite |
ORPHA:54028 |
| Arthrogryposis, Distal, Type 7 |
|
Arthrogryposis multiplex congenita, Distal arthrogryposis, Dysphagia, Feeding difficulties |
OMIM:158300 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Dysphagia, Feeding difficulties, Generalized amyotrophy |
OMIM:618323 |
| Moynahan Syndrome |
|
Alopecia, Cachexia, Sparse hair |
ORPHA:2574 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 3 |
|
Dysphagia |
OMIM:620447 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Dysphagia, Failure to thrive, Feeding difficulties |
OMIM:613668 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Feeding difficulties |
OMIM:255100 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... |
ORPHA:131 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Myotonia |
OMIM:255710 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Malnutrition, Abnormal esophagus morphology, Constipation, Spontaneous esophageal perforation, Fl... |
OMIM:226600 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Arthrogryposis multiplex congenita, Velopharyngeal insufficiency, Myopathy, ... |
OMIM:201550 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... |
OMIM:603511 |
| Oculopharyngeal Muscular Dystrophy 2 |
|
Proximal muscle weakness in lower limbs, Limb muscle weakness, Ankle contracture, Dysphagia, Feed... |
OMIM:620460 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Dysphagia |
OMIM:613925 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Nasogastric tube feeding, Abnormal gastroin... |
ORPHA:1018 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Self-mutilation, Aggressive behavior, High palate, Restlessness, Dysphagia, Small for gestational... |
OMIM:615075 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... |
OMIM:158900 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention |
ORPHA:103910 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Lower limb muscle weakness, Limb-girdle muscle weakness, Viral infection-induced rhabdomyolysis, ... |
ORPHA:329314 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Ab... |
ORPHA:95427 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Dysphagia, Weakness of facial musculature |
OMIM:618637 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Dysphagia |
ORPHA:228169 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Weight loss, Abnorma... |
ORPHA:2070 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Dysphagia, Lower limb muscle weakness |
ORPHA:101001 |
| Juvenile Primary Lateral Sclerosis |
|
Dysphagia, Skeletal muscle atrophy |
ORPHA:247604 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Dysphagia, Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:617070 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Dysphagia |
OMIM:607674 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Motor stereotypy, Dysphagia |
OMIM:617862 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Generalized amyotrophy, Gastroesophageal reflux, Distal amyotrophy, Ga... |
OMIM:617519 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Abnormality of the diaphragm, Abdomin... |
ORPHA:2357 |
| Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Dysphagia, Feeding difficulties |
OMIM:608782 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Dysphagia |
OMIM:619025 |
| Fazio-Londe Disease |
|
Dysphagia, Facial diplegia |
OMIM:211500 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Upper l... |
ORPHA:171442 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Myotonic Dystrophy 1 |
|
Frontal balding, Myotonia |
OMIM:160900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Lethargy, Long eyelashes, Synophrys |
OMIM:619064 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, High palate,... |
OMIM:256030 |
| 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, Weight loss, Failure to thrive |
OMIM:143880 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Decreased muscle mass, Ragged-red muscle fibers, Foo... |
ORPHA:298 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastroesophageal reflux, Skeletal muscle atrophy, Failure to thrive, Malnutrition, Esophageal str... |
ORPHA:89842 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Dysphagia |
OMIM:302500 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle contractions |
ORPHA:324442 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Anorexia |
ORPHA:2023 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dysphagia |
ORPHA:1171 |
| Striatonigral Degeneration, Childhood-Onset |
|
Dysphagia |
OMIM:617054 |
| Malignant Peritoneal Mesothelioma |
|
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:168811 |
| Amyotrophic Lateral Sclerosis 23 |
|
Dysphagia |
OMIM:617839 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia, Synophrys |
ORPHA:391307 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... |
ORPHA:44890 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Upper limb muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscl... |
OMIM:601462 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Dysphagia |
OMIM:616321 |
| Dystonia 16 |
|
Dysphagia, Torticollis |
ORPHA:210571 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Dysphagia, Esophageal stricture |
OMIM:616029 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormality of the thenar eminence, A... |
ORPHA:85446 |
| Mitchell Syndrome |
|
Dysphagia, Limb muscle weakness |
OMIM:618960 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Amyotrophic Lateral Sclerosis 18 |
|
Dysphagia, Skeletal muscle atrophy |
OMIM:614808 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Arthrogryposis multiplex congenita, Limb muscle weakness, Weakness of facial musculature, Type 2 ... |
OMIM:608930 |
| Noonan Syndrome 7 |
|
Large for gestational age, Feeding difficulties in infancy, Abnormal esophagus morphology, Nasoga... |
OMIM:613706 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Type 1 muscle fiber predominance, Myopathy, Feeding ... |
OMIM:603034 |
| Perry Syndrome |
|
Apathy, Depression, Weight loss |
ORPHA:178509 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:619790 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Slender build, Limb muscle weakness, Type 1 ... |
OMIM:161800 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Small for gestational age, Cle... |
ORPHA:95706 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Limb muscle weakness, Myopathy, Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Dys... |
OMIM:605809 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Facial diplegia, Knee flexion contracture, Di... |
OMIM:616286 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Arthrogryposis ... |
OMIM:232500 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Dystonia 12 |
|
Dysphagia, Torticollis, Hypomimic face |
OMIM:128235 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Myotonia, Decreased body weight |
ORPHA:589821 |
| Distal Myopathy, Tateyama Type |
|
Percussion-induced rapid rolling muscle contractions |
ORPHA:488650 |
| Stuve-Wiedemann Syndrome 2 |
|
Camptodactyly, Neonatal death, Dysphagia, Stillbirth |
OMIM:619751 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Decreased muscle mass, Type 2 muscle... |
OMIM:608931 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Developmental And Epileptic Encephalopathy 46 |
|
Limb hypertonia, Dysphagia, Failure to thrive, Feeding difficulties |
OMIM:617162 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Skeletal muscle atrophy, Dysphagia, Disinhibition |
OMIM:612069 |
| Dystonia 31 |
|
Dysphagia |
OMIM:619565 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
| Spinocerebellar Ataxia 14 |
|
Attention deficit hyperactivity disorder, Dysphagia, Facial myokymia |
OMIM:605361 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Myofibrillar Myopathy 10 |
|
Percussion myotonia |
OMIM:619040 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Dysphagia, Skeletal muscle atrophy |
OMIM:617892 |
| Alexander Disease Type I |
|
Cachexia, Vomiting, Dysphagia, Failure to thrive |
ORPHA:363717 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy |
ORPHA:1216 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Mal... |
ORPHA:92050 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Dysphagia, Abnormal skeletal muscle morphology |
ORPHA:142 |
| Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Frontal balding, Myotonia |
OMIM:602668 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Dysphagia, Pseudobulbar paralysis |
OMIM:105400 |
| Intermediate Nemaline Myopathy |
|
High, narrow palate, Nemaline bodies, Skeletal muscle atrophy, Arthrogryposis multiplex congenita... |
ORPHA:171433 |
| Spinocerebellar Ataxia Type 11 |
|
Dysphagia |
ORPHA:98767 |
| Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Limb joint contra... |
ORPHA:280384 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Failure to thrive, Type 1 fibers relatively smaller t... |
OMIM:255310 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Arthrog... |
ORPHA:171439 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Dysphagia, Poor suck |
OMIM:254210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Dysphagia, Foot dorsiflexor weakness |
OMIM:607736 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Lethargy, Weight loss |
ORPHA:79242 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Early satiety, Diarrhea, Intestinal pseudo-obstruction, Hyperactive bowel sounds, Slender build, ... |
OMIM:603041 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Skeletal muscle atrophy, Failure to thrive, Constipation, Limb joint contracture, Dysph... |
ORPHA:309162 |
| Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Bifid uvula, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Feeding difficult... |
ORPHA:576283 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Neoplasm of the liver, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:90003 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Dysphagia |
OMIM:616325 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... |
OMIM:619461 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Severe Canavan Disease |
|
Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto... |
ORPHA:314911 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Dysphagia |
OMIM:620221 |
| Christianson Syndrome |
|
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Decreased muscle mass, Inappropriate... |
ORPHA:85278 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Dysphagia, Impaired oral bolus formation, Feeding... |
OMIM:617235 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... |
ORPHA:254361 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Dysphagia |
OMIM:607734 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Skeletal muscle atrophy, Decreased body weight, Attention deficit hypera... |
OMIM:617695 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Dysphagia, Compulsive behaviors, Tongue atrophy, Impulsivity |
ORPHA:216873 |
| Xq28 (MECP2) duplication |
|
Gastroesophageal reflux, Failure to thrive, Feeding difficulties in infancy, Constipation, Dyspha... |
DECIPHER:45 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Chronic diarrhea, Hep... |
ORPHA:65682 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Dysphagia, Disinhibition |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Dysphagia, Disinhibition |
OMIM:616437 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Dysphagia, Feeding difficulties |
OMIM:225753 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Dysphagia |
OMIM:613435 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Dysphagia, Pseudobulbar paralysis |
OMIM:606353 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Weakness of facial musculature, High palate, Facial palsy, Dysphagia, Feeding difficulties, Poor ... |
OMIM:616323 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:613954 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb hypertonia, Dysphagia, Lower limb muscle weakness, Generalized amyotrophy |
ORPHA:1177 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
| Spastic Paraplegia 8, Autosomal Dominant |
|
Dysphagia, Lower limb muscle weakness |
OMIM:603563 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dysphagia |
OMIM:261630 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Myotonia |
ORPHA:98855 |
| Dystonia-Deafness Syndrome 1 |
|
Pseudobulbar paralysis, Achalasia, Dysphagia, Small for gestational age, Cleft palate |
OMIM:607371 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Decreased liver function, Myopathy, ... |
ORPHA:367 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Nasogastric tube feeding in infancy, Dysphagia, Upper limb muscle weakness, Lower limb muscle wea... |
ORPHA:90117 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Hypomimic face |
ORPHA:71517 |
| 17P11.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Gastroesophageal reflux, Failure to thrive, Oral-pharyn... |
ORPHA:1713 |
| Autosomal Spastic Paraplegia Type 18 |
|
Ankle flexion contracture, Flexion contracture of toe, Elbow flexion contracture, Neck joint cont... |
ORPHA:209951 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Generalized amyotrophy, Dysphagia, Lower limb muscle weakness, Torticollis |
OMIM:619686 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Dysphagia, Limb muscle weakness |
OMIM:313200 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Myotonia |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Myotonia |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Myotonia |
ORPHA:98853 |
| Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction |
OMIM:606764 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Spinal muscular atrophy, Weaknes... |
ORPHA:254875 |
| Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... |
OMIM:175500 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... |
ORPHA:399 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties |
OMIM:612075 |
| Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Gastroesophageal reflux, Foot joint contracture, Nausea and vomiti... |
ORPHA:220402 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Limb muscle weakness, Aggressive behavior, Cachexia, Facial palsy, Dysph... |
ORPHA:97229 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormality of the nail |
ORPHA:317 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Intestinal ... |
ORPHA:2930 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Dysphagia |
OMIM:617086 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Dysphagia, Leg muscle stiffness |
ORPHA:251282 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Gaucher Disease Type 2 |
|
Flexion contracture, Dysphagia |
ORPHA:77260 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate |
OMIM:618779 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Esophageal atresia |
ORPHA:1923 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Dysphagia |
ORPHA:284271 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Percussion myotonia, Long eyelashes in irregular rows, Generalized hirsutism |
OMIM:255800 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
| Mast Syndrome |
|
Dysphagia, Lower limb muscle weakness |
OMIM:248900 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial paralysis, Failure to thrive, Skeletal muscle atrophy, Facial diplegia, Paralytic ileus, D... |
OMIM:613559 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Galactose Epimerase Deficiency |
|
Weight loss, Nausea and vomiting, Feeding difficulties |
ORPHA:79238 |
| Abeta Amyloidosis, Iowa Type |
|
Dysphagia |
ORPHA:324708 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Dysphagia, Ragged-red muscle fibers, Nasogastric tube feeding |
ORPHA:477774 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Dysphagia, Torticollis |
OMIM:224500 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:250620 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Hepatic failure, Gastric varix, Esophageal varix |
OMIM:620367 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive |
OMIM:618226 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Dysphagia, Feeding difficulties |
OMIM:618198 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Arthrogryposis multiplex... |
OMIM:616867 |
| Leber Optic Atrophy And Dystonia |
|
Dysphagia, Skeletal muscle atrophy |
OMIM:500001 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Dysphagia, Impulsivity, Gastrostomy tube feeding in infancy |
ORPHA:280195 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Large for gestational age, Small for gestational age |
ORPHA:324575 |
| Benign Schwannoma |
|
Abnormal esophagus morphology, Facial palsy, Intestinal polyposis, Abnormal parotid gland morphology |
ORPHA:252164 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Attention defic... |
ORPHA:99013 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Diarrhea, Failure to thrive, Constipation, Limb hypertonia, Joint contra... |
ORPHA:35708 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Dysphagia, Torticollis, Hypomimic face |
OMIM:619862 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dysphagia |
OMIM:300857 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
ORPHA:682 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair |
ORPHA:2221 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... |
OMIM:147060 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Anteriorly placed anus |
OMIM:615272 |
| Desmoplastic Small Round Cell Tumor |
|
Ileus, Nausea and vomiting, Cachexia, Weight loss, Abdominal distention, Abdominal pain |
ORPHA:83469 |
| Developmental And Epileptic Encephalopathy 72 |
|
Dysphagia |
OMIM:618374 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Anorexia |
ORPHA:86893 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Hepatic failure, Dysphagia |
ORPHA:2724 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature, High palate, Dysph... |
ORPHA:329336 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dysphagia, Weakness of facial musculature |
OMIM:618088 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Limb muscle weakness, Aggressive behavior, Facial palsy, Dysphagia, Generalized amyotrophy |
OMIM:614707 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia |
OMIM:614526 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Aggressive behavior, Dysphagia, Torticollis, Lower limb hypertonia |
OMIM:618369 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Intractable diarrhea, Congenital pyloric atresia, Esophageal ... |
OMIM:226730 |
| Hsd10 Disease |
|
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Dysphagia |
ORPHA:391417 |
| Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Uterine leiomyosarcoma, Esophageal neoplasm |
ORPHA:523 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Congenital Myopathy 19 |
|
Congenital contracture, Skeletal muscle atrophy, Facial hypotonia, High palate, Dysphagia |
OMIM:618578 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Feeding difficulties, Dysphagia, Motor stereotypy, Agitation |
OMIM:617435 |
| Juvenile Huntington Disease |
|
Depression, Bradykinesia, Weight loss |
ORPHA:248111 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276556 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gastrostomy tube feeding in infancy, Aggressive behavior, Limb hypertonia, Hyperactivity, Dysphag... |
ORPHA:500180 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2394 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Esophageal stricture, Decreased body weight |
OMIM:615468 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy, Failure to thrive |
ORPHA:79312 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Dysphagia, Small for gestational age, Feeding difficulties, Poor suck |
OMIM:261640 |
| Cleft Velum |
|
Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Cleft soft palate, ... |
ORPHA:99772 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia |
OMIM:264470 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysphagia |
OMIM:617916 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dysphagia, Feeding difficulties, Decreased body weight |
OMIM:617672 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Bruxism, Self-mutilation, High palate, Dysphagia, Feeding difficulties |
OMIM:619422 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy, Dysphagia |
OMIM:604360 |
| Spinocerebellar Ataxia 19 |
|
Dysphagia |
OMIM:607346 |
| Cirrhosis, Familial |
|
Fulminant hepatitis, Esophageal varix, Abdominal distention |
OMIM:215600 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Diarrhea, Ragged-red muscle fibers, Myopathy, Weakness of facial musculat... |
ORPHA:352447 |
| Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness, Disinhibition, Aggressive behavior, Self-mutilatio... |
OMIM:200150 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
| Potocki-Lupski Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Feeding difficulties in in... |
OMIM:610883 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Gastroesophageal reflux, Upper limb muscle weakness, Failure to thrive, Lower limb muscle weaknes... |
ORPHA:225154 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Esophageal stricture |
ORPHA:79409 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Gastrostomy tube feeding in... |
ORPHA:70472 |
| Oromandibular Dystonia |
|
Bruxism, Weight loss, Dysphagia, Torticollis |
ORPHA:93958 |
| Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Dysphagia, Lower limb muscle weakness |
ORPHA:2590 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Axial muscle stiffness |
ORPHA:240085 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276575 |
| Citrullinemia Type I |
|
Lethargy, Failure to thrive |
ORPHA:247525 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Dysphagia |
OMIM:616276 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Protuberant abdome... |
OMIM:278000 |
| Laryngeal Abductor Paralysis |
|
Dysphagia |
OMIM:150260 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Dysphagia, Achilles tendon contracture |
OMIM:607225 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myotonic runs |
ORPHA:353 |
| Spinocerebellar Ataxia 7 |
|
Dysphagia |
OMIM:164500 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age |
ORPHA:276580 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Failure to thrive |
OMIM:618958 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dysphagia |
OMIM:618230 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Foot joint contracture, Nasogastric tube feeding, Spinal muscular atrophy, H... |
ORPHA:166108 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Distal amyotrophy, Congenital contracture, Spinal muscular atrophy, Feeding difficulties in infan... |
OMIM:607596 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,... |
ORPHA:254886 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... |
ORPHA:100082 |
| Pontocerebellar Hypoplasia Type 2 |
|
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Upper limb hypertonia, Lower limb hypertonia,... |
ORPHA:2524 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Distal amyotrophy, Dysphagia |
ORPHA:352641 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Myopathy, Cachexia, Flexion contracture, Feeding difficulties |
ORPHA:157973 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Tracheoesophageal fistula, Esophageal atresia, Constipation, Cleft palate |
ORPHA:3157 |
| Caroli Disease |
|
Vomiting, Nausea, Weight loss, Abdominal rigidity, Cholangiocarcinoma, Anorexia, Abdominal pain, ... |
ORPHA:53035 |
| Schwartz-Jampel Syndrome |
|
Myotonia, Abnormal eyebrow morphology, Long eyelashes in irregular rows, Decreased body weight, G... |
ORPHA:800 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck |
ORPHA:163961 |
| Dystonia 37, Early-Onset, With Striatal Lesions |
|
Dysphagia |
OMIM:620427 |
| Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Colon cancer, Exocrine pancreatic insufficiency, Nausea and vomiti... |
ORPHA:1333 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Madras Motor Neuron Disease |
|
Distal amyotrophy, Dysphagia, Facial palsy |
ORPHA:137867 |
| Dystonia 28 |
|
Attention deficit hyperactivity disorder, Dysphagia, Torticollis |
ORPHA:589618 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia |
ORPHA:42 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Fatal Familial Insomnia |
|
Weight loss, Dysphagia, Constipation |
OMIM:600072 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer |
ORPHA:3217 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive |
OMIM:238970 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Dysphagia, Intestinal pseudo-obstruction |
OMIM:619780 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Failure to thrive, Esophageal varix |
OMIM:614576 |
| Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Dysphagia |
OMIM:304700 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Protruding to... |
ORPHA:411511 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:250940 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Weight... |
ORPHA:100080 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Neonatal death |
OMIM:314390 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Alopecia of scalp, Failure to thrive, Paronychia |
OMIM:201100 |
| Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
| Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Tongue atrophy, Xerostomia, Skeletal muscle atrophy, Lower l... |
ORPHA:803 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Facial diplegia, High palate, Neonat... |
OMIM:618186 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Esophageal atresia, Neonatal death |
OMIM:619859 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Dysphagia |
OMIM:617008 |
| Nephroblastoma |
|
Abdominal pain, Neoplasm of the liver, Weight loss |
ORPHA:654 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Weight loss, Dysphagia |
ORPHA:216866 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Neoplasm of the liver, Weight loss, Abdominal pain, Poor appetite |
ORPHA:69077 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Weight loss,... |
ORPHA:398063 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis |
OMIM:620133 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Dysphagia |
OMIM:617493 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Distal amyotrophy, Dysphagia, Limb hypertonia |
OMIM:618247 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Tube feeding, Dysphagia, Failure to thrive, Feeding difficulties |
OMIM:617951 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Failure to thrive, Oral-pharyngeal dysphagia, Multiple joint contractures, High palate, Flexion c... |
OMIM:618065 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Cleft Lip And Alveolus |
|
Abnormality of masticatory muscle, Dysphagia |
ORPHA:141291 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:927 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Myotonia |
OMIM:601559 |
| Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Increased intramyocellular lipid droplets, Distal amyotrophy, Dysphagia, Lower limb muscle weakness |
OMIM:614487 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia |
OMIM:618317 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... |
ORPHA:206569 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Dysphagia |
OMIM:249900 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Fiber type grouping, Vomiting, Dysphagia, Distal amyotrophy |
OMIM:271245 |
| Spinocerebellar Ataxia 44 |
|
Dysphagia |
OMIM:617691 |
| X-Linked Creatine Transporter Deficiency |
|
Ileus, Self-mutilation, Aganglionic megacolon, Cachexia, Constipation, Hyperactivity |
ORPHA:52503 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Lower limb muscle weakness, Distal lower limb muscle weakness, Constipation, Hypomimic face, High... |
OMIM:615033 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy, Failure to thrive |
OMIM:212140 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Nasal regurgitation, Dysphagia |
OMIM:618098 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia |
OMIM:620275 |
| Behr Syndrome |
|
Hamstring contractures, Chronic constipation, Achilles tendon contracture, Dysphagia, Adductor lo... |
OMIM:210000 |
| Neurofibromatosis-Noonan Syndrome |
|
Dysphagia |
ORPHA:638 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Dysphagia |
OMIM:221820 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Reticular Dysgenesis |
|
Diarrhea, Malabsorption, Weight loss, Failure to thrive |
ORPHA:33355 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
High palate, Dysphagia, Failure to thrive, Flexion contracture |
OMIM:620001 |
| Amyotrophic Lateral Sclerosis 8 |
|
Proximal amyotrophy, Dysphagia, Distal amyotrophy, Skeletal muscle atrophy |
OMIM:608627 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss, Constipation, Abdominal distention, Abdominal pain |
ORPHA:168816 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Feeding difficulties, Achalasia, Dysphagia, Esophageal stenosis |
OMIM:615510 |
| Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Duodenal atresi... |
ORPHA:1199 |
| Generalized Eruptive Keratoacanthoma |
|
Dysphagia |
ORPHA:411777 |
| Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation |
ORPHA:85447 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Skeletal muscle atrophy, Increased body weight, Nausea, In... |
ORPHA:264580 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Esophageal varix |
OMIM:616028 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Lethargy, Overweight |
ORPHA:99832 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand muscle weakness, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Distal lower li... |
OMIM:302800 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Gastroesophageal reflux, Constipation, Joint contracture, Dysphagia, Feeding difficulties |
OMIM:617664 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Dysphagia |
OMIM:614229 |
| Recurrent Respiratory Papillomatosis |
|
Choking episodes, Dysphagia, Failure to thrive |
ORPHA:60032 |
| Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Gastroesophageal reflux, Abnormal esophagus physiology, Nausea, Abnormal es... |
ORPHA:99921 |
| Pemphigus Vulgaris |
|
Depression, Weight loss, Alopecia of scalp |
ORPHA:704 |
| Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Dysphagia, Torticollis |
ORPHA:98805 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Dysphagia, Limb hypertonia, Skeletal muscle atrophy |
OMIM:619527 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy |
ORPHA:289916 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit... |
ORPHA:67 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210200 |
| Polyarteritis Nodosa |
|
Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:767 |
| Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight... |
OMIM:619377 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Failure to thrive |
OMIM:614857 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe... |
ORPHA:2538 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Facial hypotonia, Macroglossia, Dysphagia |
OMIM:615809 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:59315 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Distal amyotrophy, Dysphagia, Lower limb muscle weakness, Abnormal mitochondria in muscle tissue |
ORPHA:313772 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
| Kaposi Sarcoma |
|
Diarrhea, Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:33276 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Upper limb muscle weakness, Upper limb hypertonia, Lower limb muscle weakness, Dysphagia, Lower l... |
OMIM:607259 |
| Argininosuccinic Aciduria |
|
Dry hair, Failure to thrive, Trichorrhexis nodosa, Lethargy, Brittle hair |
OMIM:207900 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Distal amyotrophy, Skeletal muscle atrophy, Failure to thrive, Lower limb muscle weakness, Oral-p... |
ORPHA:254930 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Malnutrition, N... |
ORPHA:275761 |
| Pfapa Syndrome |
|
Abdominal pain, Weight loss, Nausea and vomiting, Malabsorption |
ORPHA:42642 |
