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Gene: Mcoln1 MGI:1890498

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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:
mucolipin 1
Synonyms:
2210015I05Rik,  TRPML1,  mucolipidin

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 Mcoln1 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.

The table below shows human diseases associated to Mcoln1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Hypergastrinemia, Babinski sign, Achlorhydria, Dystonia, Spa... OMIM:252650
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:578

The table below shows human diseases predicted to be associated to Mcoln1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Macular degeneration, Spastic gait, Tip-toe gait, Lower limb muscle weakness,... OMIM:604360
Severe Canavan Disease
Optic atrophy, Spasticity, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogast... ORPHA:314911
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Dilated... ORPHA:171442
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Cardiomyopathy, Increased level of methylsuccinic acid in urine... ORPHA:26792
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Spasticity, Left ventricular nonco... OMIM:252011
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Retinopathy, Lethargy, Gait disturbance, Feeding difficulties ORPHA:26
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Retinal degeneration, Babinski sign, Lower l... OMIM:614322
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscular d... OMIM:608099
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior... OMIM:160500
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Distal amyotrophy, Decreased response to growth hormone stimula... OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Myoclonus, Retinal d... OMIM:204200
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Spasticity, Macular degeneration, Depression, Myoclonus, Retinal degeneration, Ata... OMIM:256730
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Frequent falls, Slender build, Limb muscle weakness, Typ... OMIM:161800
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Peripheral axonal neuropathy, Lethargy, Paralysis, L... OMIM:613710
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Vomiting, Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyopathy,... OMIM:618228
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogona... ORPHA:3363
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia, Feeding... OMIM:617829
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Leth... OMIM:606777
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Macular degeneration, Distal upp... OMIM:619764
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Premature graying of hair, Interosseus muscle atrophy, Inguinal hernia, D... OMIM:619903
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Hypopigmentation of the fundus, Failure to t... OMIM:238970
Brain-Lung-Thyroid Syndrome
Incoordination, Ventricular septal defect, Atrial septal defect, Ataxia, Hypoparathyroidism, Hypo... ORPHA:209905
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, ... OMIM:613662
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Macular degeneration, Spastic gait, Distal amyotrophy, Lower limb muscle weak... OMIM:270700
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar OMIM:615439
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Tetraplegia, H... OMIM:274270
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Retinal degeneration, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, ... OMIM:256731
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Cardiomyopathy, Renal insufficiency, Nausea and vomiting, Letha... ORPHA:79312
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Dilated cardiom... OMIM:604286
Developmental And Epileptic Encephalopathy 40
Spasticity, Feeding difficulties, Myoclonus, Lethargy, Spastic tetraparesis, Small for gestationa... OMIM:617065
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Spasticity, Tip-toe gait, Abnormal posturing, Generalized dystonia, Inabi... ORPHA:216866
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity, Retinal degeneration, Bicuspid aortic valve, Atria... OMIM:615981
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Dysmetria, Tremo... OMIM:164500
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Retinal degeneration OMIM:204500
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive h... OMIM:610198
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Variegate Porphyria
Paralysis, Vomiting, Increased fecal protoporphyrin concentration, Constipation OMIM:176200
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Dilated cardiomyopathy, Camptodactyly of fi... ORPHA:272
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Re... ORPHA:206559
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy OMIM:603649
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Episodic vomitin... OMIM:618224
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Retin... OMIM:615993
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Myoclonus, ... ORPHA:101150
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Dys... ORPHA:71277
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Gastroesophageal reflux, Involuntary movements, Failure to thrive, Dif... ORPHA:442835
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Failure to thrive, Anorexia ORPHA:79283
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Re... OMIM:249270
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting, Failure to thrive, Ataxia ORPHA:622
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Spastic paraplegia, Hypertrophic cardiom... ORPHA:254913
Alg6-Cdg
Protein-losing enteropathy, Failure to thrive, Puberty and gonadal disorders, Retinal degeneratio... ORPHA:79320
Oculorenocerebellar Syndrome
Nephropathy, Retinal degeneration, Glomerular sclerosis, Choreoathetosis, Spastic diplegia OMIM:257970
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than ty... OMIM:300580
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Retinal degeneration, Unsteady... OMIM:520000
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Abdominal distention, Spastic tetraparesis, Difficulty walking, ... ORPHA:79097
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Ventricular sep... ORPHA:2515
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Spastic tetraplegia, Hypertrophic cardiomyopathy, Retinal degeneration... OMIM:300438
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Lethargy, Gait disturbance, Unsteady gait, Primary gonadal insufficien... OMIM:603896
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Progressive spastic paraplegia, Difficulty walking, Distal ... ORPHA:320360
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Hypergastrinemia, Babinski sign, Achlorhydria, Dystonia, Spa... OMIM:252650
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Vomiting, Failure to thrive, Babinski sign, Lethargy, Episodic vomiting, Ataxia, D... OMIM:618226
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Failure to thrive, Tetralogy of Fallot, Myoclonus, Dysmetria, Lethargy, Head titub... OMIM:250620
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Primary adrenal insufficiency, ... ORPHA:977
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Depression, Sensory axonal neuropathy, Cardiomyopathy, Hand muscle... ORPHA:254886
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Adiposis Dolorosa
Painful subcutaneous lipomas, Depression, Obesity, Constipation, Abdominal distention OMIM:103200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Diarrhea, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial t... ORPHA:49827
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Reduced terminal:vellus ratio, Choriocapillaris atrophy, Subretinal deposit... OMIM:601553
Melas
Nephropathy, Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Myopathy, Hemipa... ORPHA:550
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Pigmentary retinopathy, Depression, Abnormal heart morphology, Retinal d... ORPHA:79264
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... ORPHA:324588
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Tetraparesis, Renal insufficiency, Nausea and vomiting, Lethargy, ... ORPHA:27
Hsd10 Disease, Infantile Type
Optic atrophy, Poor coordination, Spastic tetraparesis, Hypertrophic cardiomyopathy, Abnormality ... ORPHA:391428
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... OMIM:620045
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Intestinal pseudo-obstruction, ... OMIM:607459
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal ga... ORPHA:1876
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Chorea, Renal insufficiency, Nausea and vomiting, Renal tubular dysfunction, Hemip... ORPHA:289916
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Arrhythmia, Hypomim... ORPHA:254892
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Mal... OMIM:155310
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Diarrhea... OMIM:601419
Morm Syndrome
Retinal atrophy, Truncal obesity, Abnormality of the kidney, Micropenis, Retinal dystrophy ORPHA:75858
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Dilated cardiomyopathy ORPHA:34587
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Tetrapare... OMIM:616827
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Opisth... OMIM:616896
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Decreased muscle mass, Peripheral axonal neuropathy, Cachexia, Weight loss, Abdominal d... ORPHA:298
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Tip-toe gait, Lower limb muscle weakness, Cardiomyopathy, Failure to thri... ORPHA:746
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... OMIM:606703
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Feeding difficulties, Tremor, Rigidity, Hyperkinetic movements... OMIM:233910
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Retinal degeneration, Renal cyst, Abnormality of the kidney, Rod-cone dyst... OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Megacystis, Umbilical hernia, Camptodactyly of finger, Vesicour... ORPHA:2604
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Vomiting, Tetraparesis, Inability to walk, Frequent falls, Chorea, Gait ataxi... OMIM:607483
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Spasticity, Dilated cardiomyopathy, Vomiting, Hypertrophic cardiomyopathy, Myoclon... OMIM:614299
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration OMIM:617173
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist... OMIM:619365
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Dystonia, Feeding diffic... OMIM:246900
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ... OMIM:619167
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Depression, Decerebrate rigidity, Difficulty walking, Decreased nerve ... ORPHA:309271
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Spasticity, Tip-toe gait, Decerebrate rigidity, Decreased nerve conduction velocit... ORPHA:309256
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Gastroesophageal reflux, Reduced subcutaneous adipose tissue, Decreased b... OMIM:618097
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Classic Galactosemia
Hepatic failure, Depression, Diarrhea, Vomiting, Incoordination, Speech apraxia, Postural tremor,... ORPHA:79239
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cyclic Vomiting Syndrome
Ataxia, Vomiting, Cardiomyopathy, Nausea, Lethargy, Gastrointestinal dysmotility, Anorexia, Abdom... OMIM:500007
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,... OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Nephrogen... OMIM:125800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Difficulty walking, Speech apraxia, Head tremor, Type II diabetes mellitus, Unsteady gait, Dyspha... ORPHA:412057
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib... OMIM:255310
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Inability to walk, Multiple ... OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle weakness, Diffic... OMIM:607155
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Spasticity, Hepatic failure, Vomiting, Failure... ORPHA:2394
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Progressive extrapyramidal muscular rigidity, Nasogastric tub... ORPHA:225147
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Myop... OMIM:609015
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis, Distal lower limb muscle weakness OMIM:608634
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Pigmentary retinopathy, Skeletal muscle atrophy, Cardiomyop... ORPHA:329336
Pontocerebellar Hypoplasia, Type 6
Spasticity, Gastroesophageal reflux, Failure to thrive, Poor suck, Elbow contracture, Appendicula... OMIM:611523
Aceruloplasminemia
Blepharospasm, Involuntary movements, Macular degeneration, Congestive heart failure, Akinesia, L... ORPHA:48818
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Vomiting OMIM:612740
Citrullinemia Type I
Spasticity, Gastroesophageal reflux, Hepatic failure, Failure to thrive, Vomiting, Ankle clonus, ... ORPHA:247525
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Gait imbalance, Rhabdomyolysis, 3-Methylglutac... OMIM:618120
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Gastroesophageal reflux, Abnormal atr... ORPHA:732
Early Myoclonic Encephalopathy
Myoclonus, Lethargy, Dysphagia, Feeding difficulties, Poor suck ORPHA:1935
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Macular degeneration, Spasticity, Resting tremor, Akinesia, Gait ataxia, Abnormal... ORPHA:247234
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Difficulty walking, Slender build, Limb muscle we... ORPHA:171439
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Lethargy, Dysphagia, Ge... OMIM:613561
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Dystonia, Multiple lipomas, Gait disturbance, Lethargy, Abnor... ORPHA:765
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Distal amyotrophy, Decreased nerve conduction... OMIM:608895
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Rod-cone dystrophy, Ataxia, Segmental peripheral demyelination/remyelination, Dysphag... ORPHA:255210
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Decreased muscle mass, Myopathy, Parkinsonism, Abnormal pyramidal sign, Feeding diffi... OMIM:234200
Central Diabetes Insipidus
Depression, Diarrhea, Failure to thrive, Anorexia, Nausea and vomiting, Lethargy, Weight loss, No... ORPHA:178029
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrop... ORPHA:263494
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Diarrhea, Ragged-red muscle fibers, Myopathy, Weakness of facial musculat... ORPHA:352447
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Huntington Disease-Like 1
Involuntary movements, Depression, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simul... ORPHA:157941
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Diarrhea, Increased fecal coproporphyrin 3, Purple urine, ... ORPHA:100924
Nephronophthisis 15
Obesity, Nephronophthisis, Retinal degeneration OMIM:614845
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Retinal degeneration, Cardiomegal... OMIM:266500
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal ... OMIM:145350
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Akinesia, Ventricular septal defect, Hydronephro... OMIM:607598
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Diarrhea, Vomiting, Dicarboxylic... ORPHA:42
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... OMIM:618985
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Dilated cardiomyopathy, Diarrhea, Failure to thrive, Vomiting, Dicarboxyl... ORPHA:71212
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Failure to thrive, Loss of ambulation, Babinski sign, Lethargy, Gait disturbance, Ata... OMIM:615838
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Muscular ventricular septal defect... ORPHA:66634
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Loss of ambulation, Parkinsonism, Rod-cone dystrophy, Choreoathetosis,... ORPHA:157850
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Tremor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyp... ORPHA:276608
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Idiopathic Intracranial Hypertension
Depression, Vomiting, Obesity, Lethargy, Papilledema, Nausea ORPHA:238624
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Inflammatory Pseudotumor Of The Liver
Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Weight loss,... ORPHA:90003
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r... ORPHA:2924
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Wolman Disease
Vomiting, Failure to thrive, Adrenal calcification, Acute hepatic failure, Abdominal distention OMIM:620151
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... ORPHA:1201
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Hyperinsulinemia, ... ORPHA:324575
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Failure to thrive, Nausea, Constipa... ORPHA:35122
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Niemann-Pick Disease, Type A
Spasticity, Vomiting, Skeletal muscle atrophy, Failure to thrive, Cherry red spot of the macula, ... OMIM:257200
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Retinal degeneration, Abnormality of extrapyramidal mot... OMIM:604290
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Loss of ambulation, Feeding difficulties in infancy, Weight loss... ORPHA:3208
Bardet-Biedl Syndrome 21
Retinal thinning, Horseshoe kidney, Hyperautofluorescent macular lesion, Obesity, Cone/cone-rod d... OMIM:617406
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Dysphagia OMIM:300857
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac... OMIM:616188
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Optic disc coloboma, Abnormal large intestinal m... ORPHA:92050
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Leg muscle stiffness, Fasciculations, Limb ataxia, Dysmetria, Ankle clonus,... ORPHA:284289
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Mitral regurgitation, Mitra... OMIM:258450
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Friedreich Ataxia
Spasticity, Hand muscle atrophy, Dysphagia, Impaired visually enhanced vestibulo-ocular reflex, P... ORPHA:95
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Spasticity, Decerebrate rigidity, Decreased nerve conduction velocity, Progressive... ORPHA:309263
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Tremor, Lethargy, Arrhythmia, Abdominal pain, C... ORPHA:99745
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:95717
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Spasticity, Tetraparesis, Inability to walk, Babinski sign, Lethargy, Flexion c... OMIM:617105
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Chronic diarrhea, Arrhythmia, Proximal amyotrop... OMIM:615084
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Diarrhea, Dark urine, Nausea and vomiting, Motor axonal ... ORPHA:79276
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Proteinuria, Delayed puberty, Abnormality of the ... ORPHA:369
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... OMIM:310200
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardio... OMIM:212140
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Spasticity, Loss of ambulation, Ataxia, Optic disc pallor, Dysphagia, Blepharospasm, Involuntary ... OMIM:617282
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Dysmet... ORPHA:96
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hyperkinetic movements, Lethargy, Gait... OMIM:236270
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Volvulus, Failure to thrive, Vomiting, Malnutrition, Villous at... ORPHA:95427
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Lethar... OMIM:250940
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
Alternating Hemiplegia Of Childhood
Diarrhea, Oral-pharyngeal dysphagia, Tetraparesis, Arrhythmia, Abnormal pyramidal sign, Ataxia, A... ORPHA:2131
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Myoclonus, Tremor, Lethargy, Dystonia, Small for gestational age, Choreoathetosis OMIM:312170
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Basal lamina onion bulb formation, Decre... OMIM:614895
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Tetraparesis, Transient ischemic attack, Pseudopapilledema, Nausea and vomit... ORPHA:140989
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Failure to thrive, Paraplegia, Cerebral ischemia, Lethargy, Reye syndrome-lik... ORPHA:927
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Elevated circulating thyroid-stimulating hormone concentration, Umbilical h... ORPHA:226313
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Situs inversus totalis, Retinal degenerati... OMIM:615994
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Combined Oxidative Phosphorylation Deficiency 59
Vomiting, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart... OMIM:620646
Isolated Complex I Deficiency
Proximal tubulopathy, Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Diabete... ORPHA:2609
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Peripheral axonal neuropathy, Dilated cardiomyopathy, Spastic paraplegia, Ataxia OMIM:619688
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Oral-pharyngeal dysphagia, Facial diplegia, Peripheral hypomyelination, Distal... OMIM:616287
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... ORPHA:101097
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Flexion contracture... OMIM:618815
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Letha... OMIM:143880
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Oculopharyngodistal Myopathy
High, narrow palate, Vocal cord paresis, Proximal muscle weakness in upper limbs, Oral-pharyngeal... ORPHA:98897
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Paroxysmal dystonia, Retinal ... ORPHA:79244
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Abnormal auditory evoked potentials, Tetraparesis, Attenuation of retinal blood vessels, ... OMIM:619260
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis, Retinal degeneration OMIM:614844
Athyreosis
Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Macroglossia, Feeding diffi... ORPHA:95713
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Hypogonadotropic hypogonadism, ... OMIM:602390
Carvajal Syndrome
Congestive heart failure, Woolly hair, Dilated cardiomyopathy ORPHA:65282
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Vomiting, Myoclonus, Lethargy, Ataxia OMIM:618225
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Cardiomyopathy, Feeding difficulties, Myopathy, Weakness of facial musculature... OMIM:201470
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Head titubation, Oculomotor apraxia, Ataxia, Retinal dystrophy ORPHA:370022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Skeletal muscle atrophy, Dilated cardiomyop... OMIM:253800
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Retinopathy, Myopathy, Abdominal distention, Steatorrhea, ... ORPHA:71
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Xerostomia, Ureterocele, Sparse eyelashes, Absence of Stensen duct, Duplicated collecting system,... OMIM:604292
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Microcolon, Renal cortical hyperechogenicity, Ileal atresia, Megacystis, Anu... OMIM:619351
Sjogren-Larsson Syndrome
Spasticity, Macular degeneration, Spastic paraparesis, Retinal thinning, Abnormal hair morphology... OMIM:270200
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Macular degeneration, Intestinal pseudo-obstruction, Myoclonus, Dysmetria,... OMIM:619780
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Peripheral demyelination, Ataxia, Poor fine motor coordination, Macular coloboma, Abnormal heart ... ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle at... ORPHA:2822
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Sensory axonal neuropathy, Rigidity, Retinal atrophy, Rod-cone dystrophy, Ataxia OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Failure to thrive, Cardiomy... OMIM:606054
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Abetalipoproteinemia
Peripheral demyelination, Retinopathy, Retinal degeneration, Ataxia, Fat malabsorption OMIM:200100
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Vici Syndrome
Myopathy, Atrial septal defect, Albinism, High palate, Dysphagia, Abnormal posturing, Median clef... OMIM:242840
Wolfram Syndrome
Nephropathy, Optic atrophy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male ... ORPHA:3463
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Lead Poisoning
Chronic kidney disease, Depression, Abdominal distention, Vomiting, Increased circulating IgE lev... ORPHA:330015
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Gastroesophageal reflux, Oculogyric crisis, Diarrhea, Limb dystonia, ... OMIM:608643
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Homocystinuria, Spastic paraparesis, Failure to thrive, Lower limb muscle weakness... ORPHA:395
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Tremor, Increased circulating T4 concentration, Increased circulating free T4 concentrati... OMIM:613239
Horner Syndrome, Congenital
Paralysis OMIM:143000
Glycine Encephalopathy 1
Hyperglycinuria, Lethargy, Myoclonus OMIM:605899
X-Linked Acrogigantism
Ataxia, Abnormal optic chiasm morphology, Pituitary adenoma, Abdominal distention, Increased circ... ORPHA:300373
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Elevated urine suberic acid level, Methylmalonic aciduria, Dilated cardiomyopathy, Vomi... OMIM:248360
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur... OMIM:620609
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Anorexia, Adrenal insufficiency, Renal insufficiency,... OMIM:619386
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dilated cardiomyopathy, Pulmonic stenosis, Dicarboxylic aciduria ORPHA:79159
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Diarrhea, Vomiting, Generalized dystonia, Chorea, Gait ataxia, Myoclonus,... OMIM:618321
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Pa... OMIM:610505
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Abnormal posturing, Failure to t... OMIM:614857
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dystonia, Dysphagia OMIM:304700
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Ataxia, Abnormality of the kidney, High palate, Retinal dystrophy, High, narr... OMIM:209900
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function... OMIM:618805
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Gastroesophageal reflux, Skeletal muscle atrophy, Failure to thrive, D... ORPHA:89842
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Constipation, Diaphragmatic paralysis, Dysphagia ORPHA:230800
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Patent foram... OMIM:607143
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Decr... OMIM:608104
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Hypogonadism, Lethargy, Abnormality of endocrine pancreas physiology, Dia... ORPHA:79230
Celiac Disease, Susceptibility To, 1
Alopecia, Depression, Type I diabetes mellitus, Failure to thrive, Diarrhea, Abdominal distention... OMIM:212750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Inability to walk, Calf m... OMIM:613155
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Crania... ORPHA:94080
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Impaired T cell function, Hypogonadism, Decreased serum testosterone... OMIM:201100
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Lethargy, Weight loss, Diabetes insipidus ORPHA:30925
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Chorioretinal hypopigmentation, Spastic paraplegia, Hepatic failure, Failure to thrive, Decreased... ORPHA:415
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension... OMIM:619431
Central Neurocytoma
Depression, Nausea and vomiting, Babinski sign, Lethargy, Ataxia ORPHA:73256
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Urinary glycosaminoglycan excretion, Abnormal mitral valve morpho... ORPHA:581
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Tongue fasciculations, Spasticity, Hepatic failure, Skeletal muscle atrophy, Failure to t... OMIM:252010
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Large for gestational age, Hyperinsulinemia, Tremor, Pancreatic i... ORPHA:263455
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Bifid uvula, Dilated cardiomyopathy, Mitral regurgita... OMIM:615959
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... OMIM:608161
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... OMIM:619566
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Williams Syndrome
Spasticity, Type II diabetes mellitus, Mitral regurgitation, Myopathy, Ventricular septal defect,... ORPHA:904
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Vomiting, Anteriorly placed anus, Obesity, Exerci... ORPHA:26793
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Spastic paraplegia, Cardiomyopathy, Motor axonal neuropathy, Myopathy, Abnormal re... ORPHA:1215
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Meningococcal Meningitis
Hypotension, Shock, Renal insufficiency, Lethargy, Papilledema, Increased circulating procalciton... ORPHA:33475
Cockayne Syndrome
Spasticity, Dry hair, Difficulty walking, Absence of pubertal development, Reduced subcutaneous a... ORPHA:191
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac... OMIM:602541
Peroxisome Biogenesis Disorder 5A (Zellweger)
Mitral regurgitation, Ventricular septal defect, Feeding difficulties in infancy, Atrial septal d... OMIM:614866
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Bardet-Biedl Syndrome 9
Obesity, Attenuation of retinal blood vessels, Renal insufficiency, Retinal degeneration, Bone sp... OMIM:615986
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Broad-based gait, Sensory axonal neuropathy, Dilated... OMIM:616541
Sjögren-Larsson Syndrome
Spasticity, Macular degeneration, Abnormal dental enamel morphology, Abnormality of retinal pigme... ORPHA:816
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Renal tubular acidosis, He... ORPHA:156
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse... OMIM:256300
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Hemiparesis, Abnormal intestine morphology, Abdom... ORPHA:1830
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi... OMIM:164310
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Lethargy, Renal insufficiency, Failure to thrive ORPHA:28
Spinocerebellar Ataxia Type 13
Optic atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Titubation, Clumsiness, T... ORPHA:98768
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Difficulty walking, Peripheral axonal neuropathy, Optic disc... ORPHA:90324
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Decreased li... ORPHA:367
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Spasticity, Rigidity, Retinal degeneration, Ataxia OMIM:616211
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomyopathy, Congestive heart failure, Decreased serum testosterone con... ORPHA:465508
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic failure, Nephronophthisis, Obesity, Ventricular septal defect, Re... OMIM:615630
Myasthenic Syndrome, Congenital, 16
High palate, Periodic paralysis OMIM:614198
Snakebite Envenomation
Epistaxis, Acute kidney injury, Neuromuscular dysphagia, Hypotension, Cardiogenic shock, Diarrhea... ORPHA:449285
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Feeding difficulties in infancy, Small for gestational age OMIM:610498
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Rod-c... OMIM:617710
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Anorexia, Nausea and vomiting, Lethargy, Weight loss, Ataxia ORPHA:79242
Gaba-Transaminase Deficiency
Lethargy, Feeding difficulties OMIM:613163
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Depression, Dilated cardiomyopathy, Intestinal ps... ORPHA:70595
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, L... OMIM:604377
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Elevated urine acetoacetic acid level, Spasticity, Skeletal muscle atrophy, Alpha-... OMIM:620089
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chr... OMIM:606824
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers... ORPHA:324581
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Optic disc coloboma, Intestinal malrotation, Renal duplication, Abdominal dis... OMIM:270420
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Limb dystonia, Protruding tongue, Myopathy, Loss of ambulat... ORPHA:2388
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Depression, Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Li... OMIM:619259
Susac Syndrome
Nausea and vomiting, Gait ataxia, Lethargy, Apathy, Upper motor neuron dysfunction ORPHA:838
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hematuria, Feeding difficulties in infancy, Tachycardia, Homocystinuria, Acute kidne... OMIM:277400
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Barth Syndrome
Dilated cardiomyopathy, Failure to thrive, Fair hair, Congestive heart failure, Hypertrophic card... OMIM:302060
Porphyria, Acute Intermittent
Depression, Diarrhea, Urinary retention, Vomiting, Paralytic ileus, Hypertension, Paralysis, Resp... OMIM:176000
Ogden Syndrome
High, narrow palate, Shuffling gait, Cardiogenic shock, Fine hair, Inguinal hernia, Ventricular s... ORPHA:276432
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Atrioventricular block, Second d... OMIM:300257
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Abdominal distentio... ORPHA:635
Thyroid Dyshormonogenesis 1
Goiter, Umbilical hernia, Lethargy, Hypothyroidism, Constipation, Macroglossia OMIM:274400
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Vitreous floaters, Cardiomegaly, A... ORPHA:85447
Kufor-Rakeb Syndrome
Difficulty walking, Parkinsonism, Apathy, Abnormal pyramidal sign, Lingual dystonia, Hypomimic fa... ORPHA:306674
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Recurrent infection of the gastrointestinal tract, ... ORPHA:51890
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Xerostomia, Absence of pubertal development, Type II diabetes mel... ORPHA:398069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Renal hypoplasia, Cardiomyopathy, Decreased liver function, Renal insuffic... OMIM:614922
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Hemiparesis OMIM:617900
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Abdominal distention OMIM:174050
Retinitis Pigmentosa 51
Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of... OMIM:613464
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Retinal degeneration, A... ORPHA:542306
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Dilated cardiomyopathy, Cardiomegaly, Lethargy, Ventricular tachycardia OMIM:600649
Mcleod Syndrome
Depression, Dilated cardiomyopathy, Cardiomyopathy, Chorea, Myopathy, Rhabdomyolysis, Motor axona... OMIM:300842
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Optic atrophy, Vasculitis, Dilated cardiomyopathy, Type I diabetes m... OMIM:615688
Donohue Syndrome
Precocious puberty, Long penis, Skeletal muscle atrophy, Hypertrichosis, Hyperinsulinemia, Pancre... OMIM:246200
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinuria, Malabsorption, Dibasicaminoaciduria OMIM:238750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventric... OMIM:201475
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hydroureter, Cardiomyopathy, Tremor, Hydronephrosis, Neuro... OMIM:222300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age, Diastasis recti, Intestinal polyp, La... ORPHA:457485
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Spasticity, Diarrhea, ... ORPHA:20
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Skeletal muscle atrophy, Upper limb ... OMIM:620538
Necrotizing Enterocolitis
Hypotension, Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Abnormal heart mo... ORPHA:391673
Pediatric Systemic Lupus Erythematosus
Nephritis, Alopecia, Abnormality of the urinary system, Diarrhea, Vomiting, Hemiplegia, Dark urin... ORPHA:93552
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Shortened QT interval,... ORPHA:652
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Obesity, Attenuation of retinal blood vessels, Hyperinsulinemia, Abn... ORPHA:791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Diarrhea, Vomiting, Elbow flexion contracture, Renal insufficiency, Incre... OMIM:608836