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Gene: Col19a1 MGI:1095415

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type XIX, alpha 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Col19a1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Col19a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Q Fever
Anorexia, Weight loss ORPHA:781
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Esophageal varix, Gastroesophageal reflux, Neonatal death, Failure to thrive OMIM:619534
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Feeding difficulties in infancy, Self-mutilation, S... OMIM:607872
Dermatomyositis
Gastrointestinal stroma tumor, Feeding difficulties in infancy, Inflammatory myopathy, Weight loss ORPHA:221
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Feeding difficulties, Anteriorly placed anus, Vomiting, Dysphagia, Lef... OMIM:220111
Supranuclear Palsy, Progressive, 2
Retrocollis, Dysphagia OMIM:609454
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Anorexia, Weight loss ORPHA:50918
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Feeding difficulties, Dysphagia OMIM:618367
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Failure to thrive, Weight loss ORPHA:99885
Marburg Hemorrhagic Fever
Lethargy ORPHA:99826
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Malrotation of small bowel, Feeding difficulties, Anteriorly plac... OMIM:606170
Ogden Syndrome
Torticollis, Diarrhea, Narrow palate, Feeding difficulties, High palate, Vomiting, Dysphagia, Abn... OMIM:300855
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Abdominal distention, Ectopic anus, Bifid tongue, Anal atresia ORPHA:93271
Niemann-Pick Disease Type C
Aggressive behavior, Aplasia/Hypoplasia of the abdominal wall musculature, Feeding difficulties, ... ORPHA:646
Exercise-Induced Malignant Hyperthermia
Lethargy ORPHA:466650
Riddle Syndrome
Diarrhea, Weight loss, Abdominal pain ORPHA:420741
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Hyperactivity, Small for gestational age, Feeding difficulties in in... ORPHA:508488
Familial Thrombocytosis
Weight loss ORPHA:71493
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Diarrhea, Increased b... ORPHA:99889
Joubert Syndrome 21
Dysphagia OMIM:615636
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Osteogenesis Imperfecta
Intestinal obstruction, Small for gestational age, Flexion contracture, Constipation, Dysphagia ORPHA:666
Supranuclear Palsy, Progressive, 1
Retrocollis, Dysphagia OMIM:601104
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy... ORPHA:500150
Stickler Syndrome
Skeletal muscle atrophy, Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, ... ORPHA:828
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... ORPHA:95455
Marfan Syndrome
Skeletal muscle atrophy, Cachexia, High, narrow palate, Cleft palate, Attention deficit hyperacti... ORPHA:558
Multiple Osteochondromas
Intestinal obstruction, Dysphagia ORPHA:321
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Weight loss ORPHA:85408
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Anorexia, Feeding difficulties in infancy, Slend... ORPHA:1328
Cockayne Syndrome
Skeletal muscle atrophy, Cachexia, Feeding difficulties in infancy, Contractures of the large joi... ORPHA:191
Gaucher Disease
Feeding difficulties in infancy, Abdominal pain, Arthrogryposis multiplex congenita, Dysphagia ORPHA:355
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopecia, Severe failure... ORPHA:740
Nocardiosis
Peritonitis, Vomiting, Anorexia, Weight loss ORPHA:31204
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Flexion contracture, Feeding difficulties, Generalized amyotrophy, Dys... OMIM:264090
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Weight loss ORPHA:91347
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Eisenmenger Syndrome
Lethargy ORPHA:97214
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Impulsivity, Feeding difficulties, Dysphagia, Self-mutilation ORPHA:642
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Esophageal spasms, Episodic abdominal pain, Dysphagia ORPHA:447
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Failure to thrive, Hirsutism, Weight loss ORPHA:90794
Sarcoidosis
Abnormality of the gastrointestinal tract, Facial palsy, Weight loss, Enlargement of parotid glan... ORPHA:797
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia, Stereotypical hand wringing ORPHA:438213
Igg4-Related Kidney Disease
Sialadenitis, Weight loss, Decreased liver function, Abdominal pain ORPHA:449395
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Flexion contractu... ORPHA:261537
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Xerostomia, Bifid uvula, Dysphagia ORPHA:2363
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Feeding difficulties, High palate, Attention deficit hyperactivity disorder, Dysphagia, Abnormal ... OMIM:619522
African Trypanosomiasis
Alopecia, Apathy, Weight loss ORPHA:3385
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Flexion contractu... ORPHA:261552
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Anorexia, Abdominal pain ORPHA:91500
Alström Syndrome
Esophageal varix, Obesity, Truncal obesity, Gastroesophageal reflux, Hepatic failure, Polyphagia ORPHA:64
Norrie Disease
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... ORPHA:649
Proteus Syndrome
Cachexia, Abnormality of the nail, Generalized hirsutism ORPHA:744
Tropical Endomyocardial Fibrosis
Myocardial calcification, Malnutrition, Cachexia ORPHA:75565
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col19a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col19a1.

No publications found that use IMPC mice or data for Col19a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Col19a1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Col19a1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col19a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col19a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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