Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Urinary incontinence, Ankle clonus, Tip-t... |
OMIM:604360 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Poor fine motor coordina... |
ORPHA:171442 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Spasticity, Vomiting, Gastrostomy tube feeding in infancy, Poor suck, Op... |
ORPHA:314911 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Babinski sign, Lower limb ... |
OMIM:614322 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Optic atrophy, Failure to thrive, Increased level of methylsuccinic acid in urine... |
ORPHA:26792 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Flexion contracture, Optic atrophy, Truncal ataxia, Abnormal mitochondria in muscle t... |
OMIM:252011 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Methylmalonic Acidemia With Homocystinuria |
|
Retinopathy, Gait disturbance, Failure to thrive, Feeding difficulties, Lethargy |
ORPHA:26 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Tip-toe gait, Amyotrophy of an... |
OMIM:160500 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Small for gestational age, Retin... |
OMIM:275400 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Truncal ataxia, Spastic paraplegia, Hypopigmentation of the fundus, Decreased liver function, Let... |
OMIM:238970 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
High palate, Facial palsy, Rigidity, Feeding difficulties in infancy, Dilated cardiomyopathy, EMG... |
OMIM:161800 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Parkinsonism, Retinal ... |
OMIM:204200 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Difficulty walking, Peripheral ... |
OMIM:613710 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Progressive spastic paraplegia, Abnormal pyramidal sign, Optic atrophy, Supraventricular arrhythm... |
ORPHA:320360 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Feeding difficulties, Letha... |
OMIM:617829 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dysdiadochokinesis, Premature graying of hair, Dilated cardiomyopathy... |
OMIM:619903 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal upper limb amyotrophy, Macular degeneration, Distal lower limb muscle weakness, Distal low... |
OMIM:619764 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Abnormal pyramidal sign, Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy |
OMIM:618228 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Nausea and vomiting, Coma, Abdominal pain, Choreoathetosis, Failure to thrive, Ano... |
ORPHA:79312 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Abdominal pain, Cachexia, Ataxia, Abdominal distention, Malnutrition,... |
OMIM:613662 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Loss of ambulation, Calf... |
OMIM:604286 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Flexion contracture, Optic atrophy, Retinal degeneration, Macular degeneration, Myocl... |
OMIM:256730 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Feeding ... |
OMIM:617065 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Brain-Lung-Thyroid Syndrome |
|
Abnormal cardiac septum morphology, Choreoathetosis, Compensated hypothyroidism, Hypoparathyroidi... |
ORPHA:209905 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... |
OMIM:619565 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Uraciluria, Failure to thrive, Hypertonia, Tetraplegia, Lethargy |
OMIM:274270 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Spastic ... |
OMIM:270700 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Retinal degeneration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambul... |
OMIM:256731 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Hypogonadism, Bicuspid aortic valve, Retinal degeneration, Dilated cardiomyop... |
OMIM:615981 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Diaphragmatic eventration, Optic atrophy, Nonc... |
OMIM:610198 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Variegate Porphyria |
|
Increased fecal protoporphyrin concentration, Vomiting, Constipation, Paralysis |
OMIM:176200 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Rod-cone dystrophy, Tip-toe gait, Spasticity, Inability to walk, Weight loss,... |
ORPHA:216866 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Muscular dystrophy, Gait disturbance... |
ORPHA:272 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration, Myoclonus, Ataxia |
OMIM:204500 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertr... |
ORPHA:206559 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy, Gait disturbance, Anorexia |
ORPHA:79283 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Macular degenera... |
OMIM:164500 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Retinal degene... |
OMIM:615993 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion co... |
ORPHA:206546 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Gne Myopathy |
|
Hypothyroidism, Muscle fiber inclusion bodies, Steppage gait, Shoulder girdle muscle atrophy, Sca... |
ORPHA:602 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... |
OMIM:612937 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrap... |
ORPHA:101150 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis, Distal amyotrophy |
OMIM:158580 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting, Ataxia |
ORPHA:622 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Poor suck, Type 1 fibers relatively smaller than type 2 fibers, Dilated ca... |
OMIM:300580 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:98853 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... |
OMIM:255160 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Gastroesophageal reflux, Aminoaciduria, Ventricular septal defect, Cone/cone-rod dystrophy, Optic... |
OMIM:249270 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Gastroesophageal reflux, Spasticity, Limb hypertonia, Optic atrophy, Rigidity, Retinal degenerati... |
ORPHA:442835 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, ... |
OMIM:250620 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Abnormality of retinal pi... |
ORPHA:2515 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Abnormal intestine morphology, Myopathy, Megacy... |
ORPHA:977 |
Oculorenocerebellar Syndrome |
|
Spastic diplegia, Retinal degeneration, Choreoathetosis, Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Vomiting, Optic atrophy, Ataxia, Babinski sign, Episodic vomiting, Failure to thrive, Dysphagia, ... |
OMIM:618226 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Primary gonadal insufficiency, Spasticity, Decreased circulating progesterone, Optic atrophy, Gai... |
OMIM:603896 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Folinic Acid-Responsive Seizures |
|
Chorea, Optic atrophy, Ataxia, Abdominal distention, Spastic tetraparesis, Difficulty walking, Hy... |
ORPHA:79097 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Nausea and vomiting, Coma, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Ren... |
ORPHA:27 |
Melas |
|
Hypothyroidism, Diarrhea, Optic atrophy, Abnormal mitochondria in muscle tissue, Wolff-Parkinson-... |
ORPHA:550 |
Alg6-Cdg |
|
Rod-cone dystrophy, Increased circulating androgen concentration, Retinal degeneration, Macroglos... |
ORPHA:79320 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Diarrhea, Cardiac arrest... |
ORPHA:49827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Optic atrophy, Nausea and vomiting, Coma, Choreoathetosis, Hemiplegia/hemiparesis, Renal ... |
ORPHA:289916 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Type II diabetes mellitus, Unsteady gait, Pigmentary retinopathy, Cardiomyo... |
OMIM:520000 |
Dopa-Responsive Dystonia |
|
Urinary incontinence, Generalized dystonia, Vomiting, Inability to walk, Parkinsonism, Rigidity, ... |
ORPHA:255 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Inability to walk, Babinski sign, Truncal titubation, Action tremor, Hypertonia, Dysphagia, Frequ... |
OMIM:607483 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Tip-toe gait, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Poor... |
ORPHA:746 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Urinary incontinence, Spasticity, Tip-toe gait, Optic atrophy, Progressive gait atax... |
ORPHA:309256 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dilated cardiomyopathy, Congestive heart fail... |
ORPHA:324588 |
Mucolipidosis Iv |
|
Optic atrophy, Spastic tetraplegia, Achlorhydria, Retinal degeneration, Babinski sign, Hypergastr... |
OMIM:252650 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Weight loss, Projectile vomiting, Abdom... |
OMIM:620045 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration, Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Skeletal musc... |
OMIM:616896 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... |
ORPHA:98855 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Lethargy, Dystonia |
OMIM:618224 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Multiple Carboxylase Deficiency |
|
Alopecia, Optic atrophy, Coma, Ataxia, Organic aciduria, Spastic paraparesis, Feeding difficultie... |
ORPHA:148 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Increased connective tissue, Dila... |
OMIM:616827 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Axonal regeneration, Par... |
OMIM:605285 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Drowsiness, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, ... |
ORPHA:276575 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Diarrhea, Dilated cardiomyopathy... |
OMIM:601419 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Muscle fiber atrophy, Shuffling gait, Optic atrophy, Facial palsy, P... |
ORPHA:254886 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormal mitral valve morphology, Abnormality of the gastroin... |
ORPHA:1876 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Drowsiness, Syncope, Maternal diabetes, Large for gestational age, Hyperinsulin... |
ORPHA:276580 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Urinary incontinence, Abnormal posturing, Chorea, Poor suck, Resting tremor, Parkins... |
ORPHA:225147 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Cachexia, Abnormality of the extraocular muscles, Dysphagia, Atrophic muscularis propri... |
ORPHA:298 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Clumsiness, EMG: myopathic abnormalities, Distal upper ... |
ORPHA:603 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Gait disturbance, Dilated cardiomyopathy |
ORPHA:34587 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Leigh Syndrome With Cardiomyopathy |
|
Retinopathy, Optic atrophy, Renal dysplasia, Hypertrophic cardiomyopathy, Hypertonia, Dysphagia, ... |
ORPHA:70474 |
Citrullinemia Type I |
|
Gastroesophageal reflux, Spasticity, Ankle clonus, Vomiting, Hepatic failure, Coma, Torticollis, ... |
ORPHA:247525 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... |
ORPHA:2494 |
Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Tongue atrophy, Pseudobulbar paralysis, Macular degeneration, Choreoathetosis, Upper mo... |
ORPHA:99 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Hsd10 Mitochondrial Disease |
|
Spasticity, Optic atrophy, Spastic tetraplegia, Retinal degeneration, Choreoathetosis, Hypertroph... |
OMIM:300438 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Vomiting, Diarrhea, Urinary retention, Megaduodenum, Aganglionic megacolon... |
OMIM:155310 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Babinski sign, Sensory axonal neuropathy, Frequent falls, Dysphagia, Scapular winging, Gait ataxi... |
OMIM:607459 |
Galactosemia |
|
Hepatic failure, Vomiting, Gait imbalance, Diarrhea, Postural tremor, Abnormality of extrapyramid... |
ORPHA:352 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Flexion contracture, Distal lower limb amyotrophy, Optic atrophy, T... |
ORPHA:99947 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, High palate, Weakness of orbicularis oculi muscle, Abnormal mitochondria... |
ORPHA:59135 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ventricular arrhythmia, Facial diplegia, Palpitations, Frequent falls, Hypertonia... |
ORPHA:254892 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Waddling gait, Myopath... |
OMIM:602541 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Abnormality of the lowe... |
ORPHA:391428 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Dilated cardiomyopathy, Cong... |
OMIM:606703 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Vomiting, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Dil... |
OMIM:614299 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Hypertrophic cardiomyopathy, Lethargy, Bradykinesia |
OMIM:618683 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, Abnormality of the kidney, Retinal degeneration, Renal cyst, Ob... |
OMIM:615982 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Hypertrophic cardiomyopathy, Decreased liver function, Feeding difficulties, Lethargy, Dy... |
OMIM:246900 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Gastroesophageal reflux, Reduced subcutaneous adipose tissue, Decreased body weight, Dilated card... |
OMIM:618097 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Multiple lipomas, Increased adipose tissue, Gait disturbance, Hypertension, Congestive heart fail... |
ORPHA:1349 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Drowsiness, Small for gestational age, Syncope, Maternal diabetes, Large for ge... |
ORPHA:324575 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Cerebral ischemia, Poor appetite, Delirium, Coma, Drowsiness, Reye syndrome-l... |
ORPHA:927 |
Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Spasticity, Chorea, O... |
ORPHA:309271 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Freq... |
OMIM:300718 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Drowsiness, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancreatic... |
ORPHA:276556 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Recurrent urinary tract infections, Abdominal distention, Megacystis, Nephrolith... |
OMIM:619365 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Ketonuria, Myoclonus, Left ventricular hypertrophy, Dilated cardiomyopathy,... |
OMIM:619167 |
Cyclic Vomiting Syndrome |
|
Vomiting, Abdominal pain, Ataxia, Anorexia, Gastrointestinal dysmotility, Nausea, Lethargy, Cardi... |
OMIM:500007 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention |
ORPHA:103909 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Nausea ... |
ORPHA:2241 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Vomiting, Feeding difficulties in infancy, Failure to thrive, Polyuria, Const... |
OMIM:304800 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Feeding difficulties in infancy, Failure to thrive, Polyuria, Constipation, Megacystis,... |
OMIM:125800 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Spasticity, Optic atrophy, Progressive gait ataxia, Clumsiness, Abdominal d... |
ORPHA:309263 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal pyramidal sign, Generalized amyotrophy, Abnormal EKG, Progressive gait ataxia, Lower lim... |
ORPHA:1177 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Drowsiness, Coma, Hyperinsulinemic hypoglycemia, Tremor, Pancreatic islet-cell ... |
ORPHA:276608 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... |
ORPHA:401768 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... |
OMIM:611615 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Retinopathy, Malabsorption, Type II diabetes mellitus, Hypertension, Congestive h... |
ORPHA:225 |
Congenital Myopathy 4A, Autosomal Dominant |
|
High palate, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism, Short stature, Ataxia, Postnatal growth retardation |
OMIM:616113 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia... |
ORPHA:42 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Truncal ataxia, Retinal atrophy, Oculomotor apraxia, Difficulty walking, Dysphagi... |
ORPHA:412057 |
Porphyria, Acute Hepatic |
|
Vomiting, Respiratory paralysis, Paralysis |
OMIM:612740 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Small for gestational age, Dilated cardiomyopathy, Congestive heart failure, Fail... |
OMIM:609015 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Tube feeding, Parkinsonism, Myoclonic spasms, Retinal degeneration,... |
ORPHA:79264 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Tip-toe gait, Calf muscle hypertrophy, Exercise-induced myoglobinuria, Congenital muscular dystro... |
OMIM:607155 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Spasticity, Vomiting, Abnormal cardiac ventricular function, Hepatic failure, Increased urine alp... |
ORPHA:2394 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal pyramidal sign, Gait imbalance, High palate, Weakness of facial musculat... |
ORPHA:329336 |
Polymyositis |
|
Gastroesophageal reflux, Abnormal atrioventricular conduction, Weight loss, Abnormal mitral valve... |
ORPHA:732 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Vomiting, Diarrhea, Coma, Reduced muscle carnitine level, Congestive ... |
OMIM:212140 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Difficulty walking, Distal lower limb muscle weakness |
OMIM:608634 |
Pontocerebellar Hypoplasia, Type 6 |
|
Gastroesophageal reflux, Spasticity, Narrow palate, Poor suck, Appendicular spasticity, Upper lim... |
OMIM:611523 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Early Myoclonic Encephalopathy |
|
Poor suck, Myoclonus, Dysphagia, Feeding difficulties, Lethargy |
ORPHA:1935 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Childhood-Onset Nemaline Myopathy |
|
Poor fine motor coordination, Flexion contracture, Facial diplegia, Nemaline bodies, Difficulty w... |
ORPHA:171439 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Feingold Syndrome 2 |
|
Intestinal atresia, Short stature, Postnatal growth retardation |
OMIM:614326 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Spasticity, Coma, Gait disturbance, Ataxia, Babinski sign, Spastic tetraparesis, Failure to thriv... |
OMIM:615838 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Failure to thrive, Hypertrophic cardiomyopathy, Dysphagia, Lethargy, Ragg... |
OMIM:613561 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Gait imbalance, Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexio... |
OMIM:618120 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Diarrhea, Delirium, Fluctuations in consciousness, Abdominal pain, Increased fecal ... |
ORPHA:100924 |
Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, Spasticity, Abnormal pyramidal sign, High palate, Cerebral palsy, Feeding diffi... |
ORPHA:765 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Diarrhea, Feeding difficulties in infancy, Dicarboxylic aciduria, Dilated cardiomyopath... |
ORPHA:71212 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Thyroiditis, Celiac disease, Delayed puberty, Decreased serum insulin-like growth ... |
OMIM:618985 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerative vitreoretinopathy, Skel... |
OMIM:607598 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Mitral valve prolapse, Retinal pigment... |
OMIM:145350 |
Adiposis Dolorosa |
|
Constipation, Obesity, Painful subcutaneous lipomas, Abdominal distention |
OMIM:103200 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Morm Syndrome |
|
Retinal atrophy, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Micropenis |
ORPHA:75858 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Lacticaciduria, Multiple glomerular cysts, Hypertrophic cardiomyopathy, Hypertonia... |
ORPHA:255210 |
Classic Galactosemia |
|
Hepatic failure, Vomiting, Gait imbalance, Diarrhea, Postural tremor, Clumsiness, Gait disturbanc... |
ORPHA:79239 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Neoplasm of the large inte... |
ORPHA:157798 |
Acute Intermittent Porphyria |
|
Diarrhea, Respiratory paralysis, Pseudobulbar paralysis, Hepatocellular carcinoma, Ileus, Coma, A... |
ORPHA:79276 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... |
ORPHA:247234 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Generalized amyotrophy, Diaphragmatic eventration, O... |
ORPHA:66634 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Diarrhea, Weight loss, Nausea and vomiting, Nocturia, Failure to thrive, Anor... |
ORPHA:178029 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity, Peripher... |
OMIM:608895 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Typhoid |
|
Diarrhea, Coma, Cardiac arrest, Abdominal pain, Ataxia, Epistaxis, Tremor, Constipation, Gastroin... |
ORPHA:99745 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, Lethargy, ... |
OMIM:233910 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Insulinoma |
|
Hyperinsulinemia, Fluctuations in consciousness, Coma, Abnormality of the pancreatic islet cells,... |
ORPHA:97279 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... |
ORPHA:103907 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ataxia, Abnormal renal physio... |
OMIM:266500 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Muscular dystrophy, Adrenocortical hypoplasia, ... |
OMIM:307030 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, M... |
ORPHA:2924 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Nephronophthisis 15 |
|
Nephronophthisis, Retinal degeneration, Obesity |
OMIM:614845 |
Niemann-Pick Disease, Type A |
|
Spasticity, Vomiting, Inability to walk, Rigidity, Feeding difficulties in infancy, Failure to th... |
OMIM:257200 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Atresia Of Small Intestine |
|
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Failure to thrive, Intes... |
ORPHA:1201 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy, Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing ... |
OMIM:618573 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Generalized amyotrophy, Poor appetite, Dilated cardiomyopathy, Weakness of facial muscu... |
ORPHA:352447 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abnormal lower m... |
OMIM:607641 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Dysphagia |
OMIM:300857 |
Friedreich Ataxia |
|
Poor fine motor coordination, Inability to walk, Optic atrophy, Babinski sign, Sensory axonal neu... |
ORPHA:95 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:602271 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Multiple joint contractures, Inability to walk, Writer's cramp... |
OMIM:128100 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Vomiting, Chronic diarrhea, Abnormal large intestinal mucosa morpholog... |
ORPHA:92050 |
Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Babinski sign, Hypertrophic cardiomyopathy, Abnormal left ventri... |
ORPHA:3208 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Aceruloplasminemia |
|
Chorea, Blepharospasm, Retinal degeneration, Torticollis, Abnormality of extrapyramidal motor fun... |
OMIM:604290 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Generalized amyotrophy, Dilated cardiomyopathy, Hypergonadotropic hypogonadism,... |
OMIM:615084 |
Huntington Disease-Like 1 |
|
Gait ataxia, Poor fine motor coordination, Abnormal posturing, Chorea, Weight loss, Clumsiness, G... |
ORPHA:157941 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Hepatocellular carcinoma, Abdominal distention, Failure to thrive, Hyp... |
ORPHA:369 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Vomiting, Diarrhea, Abdominal distention |
ORPHA:35122 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode... |
ORPHA:263665 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Congenital Hypothyroidism |
|
Hypotension, Abnormal pericardium morphology, Hypothyroidism, Optic atrophy, Hypogonadism, Anteri... |
ORPHA:442 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Lethargy, Cardiomyopathy |
ORPHA:254857 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ankle clonus, Truncal ataxia, Progressive gait ataxia, Macular degeneration, Limb ataxia, Dysmetr... |
ORPHA:284289 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Flexion contracture, Inability to walk, Babinski sign, Tetraparesis, Nephrocalcinosis... |
OMIM:617105 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Dysphagia, Feeding difficulti... |
OMIM:617282 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Ab... |
ORPHA:96 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Lethal Congenital Contracture Syndrome 7 |
|
Knee flexion contracture, Distal arthrogryposis, Paralysis, Facial diplegia, Skeletal muscle atro... |
OMIM:616286 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystonia |
OMIM:312170 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber atrophy, Optic atrophy, Truncal ataxia, Babinski sign, Sensory axonal neuropathy, St... |
OMIM:258450 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Weight loss, Small in... |
ORPHA:95427 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Periph... |
OMIM:614895 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism |
ORPHA:281090 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Al Amyloidosis |
|
Abnormal autonomic nervous system physiology, Hypertrophic cardiomyopathy, Dysphagia, Abnormal P ... |
ORPHA:85443 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Akinesia, Optic atrophy, Feeding difficulties in infancy, Choreoathetosis, Babinsk... |
OMIM:234200 |
Primary Angiitis Of The Central Nervous System |
|
Pseudopapilledema, Parkinsonism, Transient ischemic attack, Hemiparesis, Paraparesis, Cerebral va... |
ORPHA:140989 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Gait disturbance, Failure to thrive, Lethargy, Hypertonia, Hyperkinetic movements, Methylmalonic ... |
OMIM:236270 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Feeding difficulties in infancy, ... |
ORPHA:226313 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf m... |
OMIM:310200 |
Idiopathic Intracranial Hypertension |
|
Vomiting, Obesity, Nausea, Lethargy, Papilledema |
ORPHA:238624 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Peripheral axonal neuropathy, Dilated cardiomyopathy, Ataxia, Spastic paraplegia |
OMIM:619688 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis,... |
OMIM:143880 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hypogonadotropic hypogonadism, Leth... |
OMIM:602390 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Poor fine motor coordination, Hemolytic-uremic syndrome, Glomerulopathy, Delirium, Optic atrophy,... |
ORPHA:79282 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Athyreosis |
|
Hypothyroidism, Macroglossia, Abdominal distention, Feeding difficulties, Constipation, Thyroid a... |
ORPHA:95713 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Coma, Hemiplegia/hemiparesis, Hype... |
ORPHA:156 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Pulmonary insufficiency, Renal dysplasia, Recurrent urinary tract infectio... |
ORPHA:105 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Hypogonadism, Stage 5 chronic kidney disease, Retina... |
OMIM:615994 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Bradycardi... |
OMIM:618815 |
Alternating Hemiplegia Of Childhood |
|
Diarrhea, Oculomotor apraxia, Episodic hemiplegia, Choreoathetosis, Abnormal autonomic nervous sy... |
ORPHA:2131 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Broad eyebrow, Macular degeneration, High palate |
OMIM:612948 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Flexion contracture, Peripheral axonal degeneration, Frequent falls, C... |
ORPHA:101097 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Fundic gland polyposis, Melena |
OMIM:619182 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Vomiting, Limb hypertonia, Poor appetite, Coma, Feeding difficulties in in... |
OMIM:606054 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Akinesia, Parkinsonism, Rigidity, Retinal degeneration, Torti... |
ORPHA:48818 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... |
OMIM:619079 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Woolly hair |
ORPHA:65282 |
Isolated Complex I Deficiency |
|
Proximal tubulopathy, Vomiting, Abnormal mitochondria in muscle tissue, Ataxia, Failure to thrive... |
ORPHA:2609 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Constipation, Thyroid agenesis, Umbilical hernia |
ORPHA:95719 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Vomiting, Myoclonus, Ataxia, Lethargy |
OMIM:618225 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Babinski sign, Progressive cereb... |
ORPHA:101112 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Oculopharyngodistal Myopathy |
|
Tibialis muscle weakness, Abnormality of masseter muscle, High palate, Abnormality of orbicularis... |
ORPHA:98897 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Abnormal pyramidal sign, Spastic gait, Coma, Poor coordination, Protein avoidanc... |
ORPHA:415 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Renal cortical hyperechogenicity, Anuria... |
OMIM:619351 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Peroneal muscle atrophy, Weakness of long finger ... |
ORPHA:609 |
Vici Syndrome |
|
Abnormal posturing, Ocular albinism, Hypopigmentation of the fundus, Dysphagia, Cleft palate, Dec... |
OMIM:242840 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Abnormal pyramidal sign, Ataxia, Failure to thrive, Weakness of facial muscu... |
OMIM:201470 |
Colorectal Cancer |
|
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma |
OMIM:114500 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Vomiting, Diarrhea, Drowsiness, Glycosuria, Coma, Large for gestational age, Hy... |
ORPHA:263455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Optic atrophy, Calf muscle hypertrophy, Congen... |
OMIM:253800 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Adrenal insufficiency, Lacticaciduria, Hypertrophic cardiomyopathy, Anorexia, Rena... |
OMIM:619386 |
Wolfram Syndrome |
|
Cardiomyopathy, Diabetes insipidus, Optic atrophy, Recurrent urinary tract infections, Malabsorpt... |
ORPHA:3463 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Lower limb muscle weakness, Hemiparesis, Feeding difficulties in infancy, Gait dis... |
ORPHA:395 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Lower limb muscle weakness, Parkinsonism, Retinal degeneration, Paraparesis, P... |
ORPHA:2822 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate ... |
OMIM:605711 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Limb dystonia, Choreoathetosis, Bull's eye maculopathy, Spasticity, Rod-cone dystr... |
ORPHA:157850 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Diarrhea, Limb... |
OMIM:608643 |
Nephronophthisis 14 |
|
Nephronophthisis, Retinal degeneration, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Fair hair, Cleft palate, Sparse eyelashes, Vesicoureteral reflux, Sparse axillar... |
OMIM:604292 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Synophrys, Abnormal auditory evoked potentials, Macular atrophy, Attenuatio... |
OMIM:619260 |
Chylomicron Retention Disease |
|
Retinopathy, Vomiting, Diarrhea, Fat malabsorption, Steatorrhea, EMG: myopathic abnormalities, Ab... |
ORPHA:71 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Vomiting, Dicarboxylic aciduria, Dilated cardiomyopathy |
ORPHA:79159 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Decreased motor nerve conduction velocity, Gait d... |
ORPHA:101076 |
Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Villous atrophy, Dependency on parenteral nutrition, Microvillus inclusions, Abdominal ... |
OMIM:619445 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Spasticity, Rod-cone dystrophy, Retinal atrophy, Rigidity, Ataxia, Sensory axonal neuropathy |
OMIM:610127 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia |
ORPHA:230800 |
Glycine Encephalopathy |
|
Myoclonus, Lethargy, Hyperglycinuria |
OMIM:605899 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... |
ORPHA:160148 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Abnormal pyramidal sign, Neurogenic bladder, Involuntary movements, Macular degeneration, Myoclon... |
OMIM:619780 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Paralysis, Myocardial infarction, Abnormality of venous physiology,... |
ORPHA:90064 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Oculomotor apraxia, Retinal dystrophy, Ataxia, Head titubation |
ORPHA:370022 |
Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Elevated urine suberic acid level, Chronic constipation, Abdominal pain, Dila... |
OMIM:248360 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Poor fine motor coordination, Vomiting, Small for gestational age, ... |
ORPHA:330015 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Chronic diarrhea, Failure to thrive in infancy... |
OMIM:618805 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Retinal degeneration, Gait disturbance, Babinski sign, Difficulty walking, H... |
ORPHA:79244 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Dilated cardiomyopathy, Diabetes mell... |
ORPHA:79230 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Generalized dystonia, Vomiting, Diarrhea, Spastic tetraplegia, Myoclonus, Le... |
OMIM:618321 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Increased left ventricular end-diastolic vo... |
OMIM:615248 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Abnormal posturing, Atrial septal defec... |
OMIM:614857 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Macroglossia, Abdominal distention, Constipation, Tetraplegia, Umbilical hernia, ... |
ORPHA:226292 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Inability to walk, Calf muscle hypertrophy, Facial palsy, Muscular dystrophy... |
OMIM:613155 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Coma, Failure to thrive, Renal insufficiency, Lethargy |
ORPHA:28 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased res... |
OMIM:203800 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Spastic diplegia, Feeding difficulties in infancy... |
OMIM:300048 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Nausea and vomiting, Coma, Ataxia, Organic aciduria, Anorexia, Lethargy |
ORPHA:79242 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... |
OMIM:193250 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Enamel hypoplasia, Spasticity, Flexion contracture, Retinal t... |
OMIM:270200 |
N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Coma, Failure to thrive, Confusion, Lethargy |
OMIM:237310 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Vomiting, Diarrhea, Weight loss, Lethargy |
ORPHA:30925 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Spasticity, Vomiting, Hepatic failure, Concentric hypertrophic ca... |
OMIM:252010 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dysphagia, Dystonia |
OMIM:304700 |
Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Retinal degeneration, Spasticity, Optic atrophy |
OMIM:616211 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Vomiting, Ventricular septal defect, Small for gestational age, Pericardial... |
ORPHA:26793 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Glycosuria, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chr... |
OMIM:606824 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Microcolon, Hydroureter, Intestinal malrotation, Megacystis, Portal hypertension... |
OMIM:619431 |
Abetalipoproteinemia |
|
Retinopathy, Fat malabsorption, Retinal degeneration, Ataxia, Peripheral demyelination |
OMIM:200100 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Vomiting, Abdominal distention |
ORPHA:313906 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Hypogonadism, Poor appetite, Ataxia, Failure to thrive, Alopecia of scalp, Tremor, Impa... |
OMIM:201100 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Temporal optic disc pallor, Abnormal retinal nerve fiber layer morph... |
ORPHA:1215 |
Meningococcal Meningitis |
|
Hypotension, Drowsiness, Projectile vomiting, Shock, Anorexia, Reduced consciousness/confusion, L... |
ORPHA:33475 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Feeding difficulties in infancy, Camptodactyly, Renal cortical microcysts, Cleft p... |
OMIM:614866 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Hirsutism, Abdominal obesity, Rod-cone dystrophy, Retinal d... |
OMIM:209900 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Vomiting, Diarrhea, Perimembranous ventricular septal defect, Camptodactyly, Abdo... |
OMIM:608104 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Bifid uvula, Dilated ca... |
OMIM:615959 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Confusion, Lethargy |
OMIM:617900 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Decreased liver function, Renal dysplasia, Myoclonus, Tongue fasciculatio... |
OMIM:614922 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, High palate |
OMIM:614198 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Hypertension associated with pheochromocytoma, Positive regitine blockin... |
ORPHA:94080 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Dysdiadochokinesis, Apraxia, Gait disturbance, Dilated cardiomyopathy, Ataxia, Un... |
OMIM:616541 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Central Neurocytoma |
|
Nausea and vomiting, Coma, Ataxia, Babinski sign, Lethargy |
ORPHA:73256 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Malabsorption, Coma, Dibasicaminoaciduria, Lethargy |
OMIM:238750 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Flexion contracture, Abnormal muscle glycogen content, Decreased liver function,... |
ORPHA:367 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Fatty replacement of skeletal muscle, Fasciculations, Parkinsonism, Bowel i... |
ORPHA:329478 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Urinary incontinence, Optic atrophy, Titubation, Torticollis, Urinary urgency, Limb ... |
ORPHA:98768 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Gastroesophageal reflux, Hypothyroidism, Congenital nephrotic syndrome, Sm... |
OMIM:256300 |
Barth Syndrome |
|
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Skeletal myopathy, Fair hair, Gait distu... |
OMIM:302060 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Confusion, Lethargy |
OMIM:613002 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Optic atrophy, Synophrys, Hirsutism, Hypertonia, Dysphagia, Coarse hair, Voc... |
ORPHA:581 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea,... |
ORPHA:652 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Abnormal intestine morphology, Impaired T cell func... |
ORPHA:1830 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Decreased muscle mass, Weight loss, Elevated jugular venous pressure, Abdominal p... |
ORPHA:465508 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Increased variability in muscle fiber diameter, High palate, Cardiac arrest, L... |
OMIM:604377 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Feeding difficulties in infancy, Lethargy |
OMIM:610498 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Wolman Disease |
|
Hepatic failure, Nausea and vomiting, Adrenal insufficiency, Cachexia, Steatorrhea, Abdominal dis... |
ORPHA:75233 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Williams Syndrome |
|
Sudden cardiac death, Peptic ulcer, Hypothyroidism, Precocious puberty, Colonic diverticula, Abno... |
ORPHA:904 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Delirium, Cystathioninuria, Abnormality of ext... |
OMIM:277400 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Shuffling gait, Ventricular septal defect, Cardiogenic shock, ... |
ORPHA:276432 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Macroglossia, Constipation, Goiter, Lethargy, Umbilical hernia |
OMIM:274400 |
Sjögren-Larsson Syndrome |
|
Spasticity, Retinopathy, Abnormal pyramidal sign, Spastic diplegia, Macular degeneration, Abnorma... |
ORPHA:816 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, High palate, Weight loss, Autophagic vacuoles, Fa... |
OMIM:164310 |
Gaba-Transaminase Deficiency |
|
Feeding difficulties, Lethargy |
OMIM:613163 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... |
ORPHA:98863 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Pericardial effusion, Ne... |
ORPHA:93552 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Cockayne Syndrome |
|
Inability to walk, Optic atrophy, Retinal atrophy, Reduced subcutaneous adipose tissue, Feeding d... |
ORPHA:191 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Snakebite Envenomation |
|
Hypotension, Neuromuscular dysphagia, Vomiting, Rhabdomyolysis, Cerebral ischemia, Respiratory pa... |
ORPHA:449285 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Ventricular septal defect, Retinal degeneration, Oculomotor apraxia, Nephronopht... |
OMIM:615630 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Gait ataxia, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine acetoacetic ... |
OMIM:620089 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Rod-cone dystrophy, Generalized amyotrophy, Limb hypertonia, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617710 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Abnormality of peripheral nerve conduction, Premature graying of hair, Retin... |
ORPHA:90324 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Optic atrophy, Poor... |
OMIM:610505 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Spasticity, Diarrhea, Weight loss, Ketonuria, Coma, Cardiac arrest, Myoclonus, Reye ... |
ORPHA:20 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
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Vomiting, Coma, Protein avoidance, Ataxia, Failure to thrive, Lethargy |
OMIM:237300 |
Kufor-Rakeb Syndrome |
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Blepharospasm, Upper motor neuron dysfunction, Babinski sign, Difficulty walking, Hypertonia, Dys... |
ORPHA:306674 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Gastroesophageal reflux, Flexion contracture, Decreased body weight, Esophageal stricture, Gastro... |
ORPHA:89842 |
Wolfram Syndrome 1 |
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Hydronephrosis, Hypothyroidism, Diabetes insipidus, Optic atrophy, Neurogenic bladder, Hydrourete... |
OMIM:222300 |
Poliomyelitis |
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Hypotension, Inability to walk, Hypoplasia of the musculature, Dysphagia, Upper limb muscle weakn... |
ORPHA:2912 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Rectovaginal fistula, Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarr... |
OMIM:270420 |
Danon Disease |
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Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Methylcobalamin Deficiency Type Cble |
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Glomerulopathy, Hemolytic-uremic syndrome, Vomiting, Drowsiness, Hypertension, Failure to thrive,... |
ORPHA:2169 |
Benign Samaritan Congenital Myopathy |
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Internally nucleated skeletal muscle fibers, Lethargy, Centrally nucleated skeletal muscle fibers... |
ORPHA:324581 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Aminoaciduria, Abnormal pyramidal sign, Vomiting, Decreased liver function, Optic atrophy, Glycos... |
ORPHA:436271 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Optic atrophy, Decreased circulating antibody level, Renal artery aneurysm, Abdominal pain, Rayna... |
OMIM:615688 |
Andersen-Tawil Syndrome |
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Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Periodic hyperkalemic p... |
ORPHA:37553 |
Cone-Rod Dystrophy, X-Linked, 1 |
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Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Susac Syndrome |
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Gait ataxia, Nausea and vomiting, Upper motor neuron dysfunction, Confusion, Lethargy |
ORPHA:838 |
Celiac Disease, Susceptibility To, 1 |
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Alopecia, Enamel hypoplasia, Vomiting, Diarrhea, Weight loss, Thyroiditis, Abdominal pain, Type I... |
OMIM:212750 |
Barth Syndrome |
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Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Attrv30M Amyloidosis |
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Diarrhea, Weight loss, Abnormal autonomic nervous system physiology, Vitreous floaters, Abnormal ... |
ORPHA:85447 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Alopecia, Vomiting, Cerebral palsy, Ketonuria, Coma, Organic aciduria, Failure to thrive, Feeding... |
OMIM:210210 |
Magel2-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Flexion contracture, Precocious puberty, Chronic constipation, Small pitu... |
ORPHA:398069 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Renal cyst, Abdominal distention |
OMIM:174050 |
Citrullinemia Type Ii |
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Vomiting, Diarrhea, Delirium, Fluctuations in consciousness, Coma, Drowsiness, Hepatocellular car... |
ORPHA:247585 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Antenatal intracerebral hemorrhage, Knee flexion contracture, Vomiting, Narrow palate, High palat... |
OMIM:608836 |
Biotinidase Deficiency |
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Alopecia, Vomiting, Diarrhea, Optic atrophy, Feeding difficulties in infancy, Ataxia, Organic aci... |
OMIM:253260 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Vomiting, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly, Lethargy |
OMIM:600649 |
Dihydropyrimidinase Deficiency |
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Extrapyramidal dyskinesia, Abnormal pyramidal sign, Feeding difficulties in infancy, Anal atresia... |
OMIM:222748 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Sudden cardiac death, Gastroesophageal reflux, Reduced left ventricular ejection fraction, Exerci... |
OMIM:201475 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Diastasis recti, Curly hair, Gait disturbance, Large for gestational age, Hypospadias, Decreased ... |
ORPHA:457485 |
Congenital Heart Defects, Multiple Types, 5 |
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