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Gene: Opa3 MGI:2686271

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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:
optic atrophy 3
Synonyms:
LOC243868,  LOC384570,  D630048P19Rik

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 Opa3 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 Opa3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Tremor, Abnormality of extrapyramidal motor function, Reduced visual acui... OMIM:165300
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, R... OMIM:258501
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Ataxia, Visual impairment, Choreoathetosis ORPHA:67047
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Deviation of the 2nd finger, Cerebellar atrophy, Resting tremor, Extrapyramidal mu... ORPHA:67036

The table below shows human diseases predicted to be associated to Opa3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Spasticity, Left ventricular nonco... OMIM:252011
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Spastic tetraplegia, Cerebral cortical atrophy, Hypoglycemia, Hypertro... OMIM:300438
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperammonemia, Lethargy, Pancrea... ORPHA:79312
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Difficulty walking, Incoordination, Paraparesis, Tip-toe gait, Hand tremor, Hand muscle weakness,... OMIM:302800
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Intrauterine ... ORPHA:272
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoclonus, Hyperg... OMIM:614299
Isolated Atp Synthase Deficiency
Optic atrophy, Spastic paraplegia, Dilated cardiomyopathy, Cerebellar atrophy, Cerebral cortical ... ORPHA:254913
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Abnormal... ORPHA:99886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopath... ORPHA:26792
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circ... OMIM:610198
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Slender build, Limb ... OMIM:161800
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Endocardial fibroelastosis... OMIM:212140
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Abnormality of retinal pigme... ORPHA:2515
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Tetraparesis, Hyperammonemia, Lethargy, Paraparesis, Pancreatitis,... ORPHA:27
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Dec... OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Increased variability in muscle fiber diameter, Dilated cardiomyopathy... OMIM:608099
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Generalized lipodystrophy, Hyperinsulinemia, Limb dystonia, Hepatic ste... ORPHA:363400
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Disproportiona... OMIM:222765
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior... OMIM:160500
Alg9-Cdg
Hypoplasia of the musculature, Ventricular septal defect, Atrial septal defect, Torticollis, Broa... ORPHA:79328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscle fiber splitting, Right ventricular dilatat... OMIM:253700
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Motor axonal neuropathy, Hand muscle atrophy, Proximal a... ORPHA:98856
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Gait atax... ORPHA:88628
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, Obesity, Retinal degeneration, ... OMIM:615981
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperglycemia, Hyperlipidemia, Decreased number of peripheral myelin... OMIM:604484
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Idiopathic Congenital Hypothyroidism
Facial edema, Depressed nasal bridge, Neonatal hyperbilirubinemia, Abnormal epiphysis morphology,... ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 38
Depressed nasal bridge, Failure to thrive, Hypertrophic cardiomyopathy, Decreased activity of mit... OMIM:618378
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Acute... ORPHA:71212
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor,... OMIM:208920
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Dysmetria, Distal lower limb... OMIM:619903
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Difficulty walking, Chorea, Myopathy, Hyperkine... ORPHA:369847
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Cystinosis
Type I diabetes mellitus, Fever, Failure to thrive, Portal hypertension, Retinopathy, Myopathy, H... ORPHA:213
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Peroxisomal Acyl-Coa Oxidase Deficiency
Wide nasal bridge, Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transamina... OMIM:264470
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Inability to walk, ... ORPHA:206546
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Peripheral demyelination, Hypothermia, Hypomethioninemia, Ataxia, Jaundice, Visual impairment, Po... ORPHA:79282
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower l... ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hepatic steatosis, Fo... OMIM:618400
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Arrhythmia, Ataxia,... ORPHA:254892
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than ty... OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona... OMIM:614436
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Hypothermia, Rigidity, Bradycardia, Babinski sign, Clonus, Limb h... OMIM:614498
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Obe... OMIM:615996
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Abnormality of Krebs cycle metabolism, Hypothermia, Low plasma citrulline, Rod-cone d... ORPHA:255210
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Tendon xanthomatosis, Resting tremor, Abnormal tibia morphology,... ORPHA:909
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, P... OMIM:604168
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans... ORPHA:66634
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:79159
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:618234
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase l... OMIM:609016
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia,... OMIM:611105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Plantar flexion contracture, Skeletal muscle atrophy, Foot dors... OMIM:620011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618138
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Dilated cardiomyopathy,... OMIM:609015
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
Propionic Acidemia
Failure to thrive, Cardiomyopathy, Hypoglycemia, Cerebral atrophy, Hyperglycinemia, Hyperammonemi... OMIM:606054
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Decreased activity of mitochondr... OMIM:618120
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, H... ORPHA:17
Wolcott-Rallison Syndrome
Acute hepatic failure, Difficulty walking, Hyperbilirubinemia, Decreased body weight, Atrial sept... ORPHA:1667
Gm1-Gangliosidosis, Type I
Severe short stature, Depressed nasal ridge, Dilated cardiomyopathy, Cherry red spot of the macul... OMIM:230500
Familial Thyroid Dyshormonogenesis
Facial edema, Depressed nasal bridge, Neonatal hyperbilirubinemia, Thyroid defect in oxidation an... ORPHA:95716
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Cerebellar atrophy, Failure to thrive, Dehydra... OMIM:214150
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Tetrapare... OMIM:616827
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circ... OMIM:619048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina... ORPHA:367
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Le... ORPHA:206559
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Rhizomelia, Growth delay, Cerebellar atrophy, Cerebral atrophy, Congestive heart fail... OMIM:616271
Melas
Type II diabetes mellitus, Myopathy, Hemiparesis, Peripheral axonal neuropathy, Ataxia, Hypoparat... ORPHA:550
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Type I diabetes mellitus, Failure to thrive, Blindness, Myoclonus, Ataxia... OMIM:560000
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growt... OMIM:610505
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Spasticity, Elevated circulating hepatic transaminase concentrati... OMIM:618329
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Congestiv... OMIM:620609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Retinopathy, Hepatic steatosis, Lower limb spasticity OMIM:615119
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Hypothermia, Decreased lev... OMIM:614654
Autosomal Recessive Progressive External Ophthalmoplegia
Dyschromatopsia, Muscle fiber atrophy, Action tremor, Myopathy, Ataxia, Bradykinesia, Visual impa... ORPHA:254886
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor... OMIM:214400
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Elevated circulating hepatic transam... ORPHA:263494
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Depressed nasal bridge, Fever, Inability to walk, Elbow flexion contracture, Obesi... OMIM:618493
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Clinodactyly, Ataxia, Long nose, Broad nasal tip, Disproportionate short-limb s... OMIM:616541
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Cerebral atrophy, Elevated circulating ... OMIM:245400
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Failure ... OMIM:617201
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Chondrocalcinosis, Fever, Abnorm... ORPHA:732
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Harel-Yoon Syndrome
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Hypertrophic cardiomyopathy, In... OMIM:617183
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Edema, Akinesia, High myopia, Ventricular septal... OMIM:607598
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Decr... OMIM:604320
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmon... OMIM:300887
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic ... OMIM:618805
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:606685
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Tremor, Abnormality of extrapyramidal motor function, Reduced visual acui... OMIM:165300
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased circul... ORPHA:79230
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Abnormality... OMIM:614307
Myopathy With Extrapyramidal Signs
Difficulty walking, Ventricular septal defect, Peripheral axonal neuropathy, Hypervalinemia, Clon... OMIM:615673
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... ORPHA:280356
Infantile Refsum Disease
Optic atrophy, Spasticity, Abnormal epiphysis morphology, Failure to thrive, Cardiomyopathy, Visu... ORPHA:772
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges... OMIM:302060
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Optic atrophy, Broad columella, Hypertrophic cardiomyopathy, Inability to walk... OMIM:619383
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypothermia, Ventricular septal defect, Arrhythmia, ... ORPHA:26793
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Sensory ... ORPHA:52430
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentrati... OMIM:619688
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Decreased mitochondrial number, Multiple joint contractures, M... ORPHA:352470
Dpm1-Cdg
Spasticity, Long hallux, Hepatosplenomegaly, Hepatic steatosis, Ataxia, Hepatomegaly, Muscular dy... ORPHA:79322
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Failure to thrive, Decreased liver function, Generalized dystonia, Abnormal heart mor... ORPHA:70472
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Ha... OMIM:618811
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, ... ORPHA:20
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... OMIM:606703
Congenital Disorder Of Glycosylation, Type Ie
Small hand, Telangiectasia, Ataxia, Hepatomegaly, Ankle flexion contracture, Muscular dystrophy, ... OMIM:608799
Barth Syndrome
Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Toe syndactyly, Failure to thrive, Dehyd... OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hypothermia, Ventri... OMIM:618775
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Tricuspid regurgitation, Anteverted nares, Intr... OMIM:612863
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Failure to thriv... ORPHA:99885
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Optic atrophy, Spasticity, Cerebral cortical atrophy, Decreased liver function... OMIM:618437
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Cone/con... OMIM:203800
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Spasticity, Congenital hip dislocation, Recurrent upper respiratory tract infectio... ORPHA:3078
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... ORPHA:324588
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Rod-cone dystrophy, Ataxia, Hepatomegaly, Dysmetria, Nonimmune hydrops fetalis... OMIM:212065
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Congenital blindness, Hepatic steatosis, Retinal detachment,... ORPHA:436182
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo... ORPHA:289504
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circ... OMIM:253800
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased circulating carnitine concentration OMIM:611283
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Visual impairment, Cerebellar... OMIM:210000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn... OMIM:619705
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Dilated cardiomyopathy, F... OMIM:255310
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inabi... ORPHA:216866
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal ... OMIM:145350
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ... ORPHA:275872
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
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Depressed nasal bridge, Global brain atrophy, Cerebellar atrophy, Failure to thr... OMIM:608776
Gm1 Gangliosidosis
Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Ventricular septal defect, Abnorma... ORPHA:354
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Blindness, Limb dystonia, Retinopathy, Tremor, Rigidity, Upper... ORPHA:216873
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Ataxia, Hepatomegaly, Hypopara... ORPHA:699
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Axonal degener... OMIM:616155
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Narrow nasal bridge, Inguinal hernia, Cerebral visual impairment, Hypertonia, ... OMIM:618379
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Optic atrophy, Decreased fumarate hydratase activity, ... OMIM:606812
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Depressed nasal bridge, Abnormal epiphysis morphology, Elevated ... ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe... OMIM:618815
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle... ORPHA:309169
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Recurrent shoulder dislocation, Narrow nose, Mitral regur... OMIM:212112
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Decreased circulating... ORPHA:90674
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2143
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Decreased activity of mitochondrial ... OMIM:251880
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Lethargy, Hepatomegaly, Dehydration ORPHA:28
Sialidosis Type 2
Skeletal muscle atrophy, Abnormal macular morphology, Umbilical hernia, Ascites, Splenomegaly, Tr... ORPHA:87876
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Skeletal muscle atrophy, Long nasal bridge, Brachial plexus neuropathy, A... OMIM:162100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Mitral regurgitation, Mitral va... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera... OMIM:616811
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Elevated circulating he... ORPHA:99901
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal heart morphology, Myoclonus, Visual loss, Tremor, Abnormality of extrapyrami... ORPHA:79262
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap OMIM:251220
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachy... OMIM:610140
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce... OMIM:615980
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Peripher... ORPHA:496790
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Abnormal optic nerve morphology, Tremor, Ri... ORPHA:33445
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated circulating alanine aminot... OMIM:614921
Aicardi-Goutieres Syndrome 9
Spasticity, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Hepatomegaly, Spastic tetraparesi... OMIM:619487
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Ragge... OMIM:615084
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Cirrhosis, Loss of subcutaneous... ORPHA:79083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Hypertrophic cardiomyopathy, Obesity, Intrauterine growth retardation, Limb dystonia, Tre... OMIM:620270
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Cimdag Syndrome
Cholelithiasis, Spasticity, Cerebral atrophy, Hypogonadism, Chorea, Pontocerebellar atrophy, Micr... OMIM:619273
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ... OMIM:615703
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circu... OMIM:251110
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Temperature instability, Tetraparesis, Autonomic bladder dysfunction, Hypothermia, Ac... ORPHA:99027
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulating hepatic tra... OMIM:615688
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... ORPHA:280365
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cholestasis, Mitral regurgitation, Rhabdomyolysis, Arrhythmia, Hypopa... ORPHA:746
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Cardiomyopathy, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Lethargy, Cereb... OMIM:251000
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Scotoma, Bulbous nose, Anteverted nares, Ga... OMIM:616505
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Timothy Syndrome
Depressed nasal bridge, Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, ... OMIM:601005
Dk1-Cdg
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:91131
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Skeletal m... ORPHA:2348
Mcleod Syndrome
Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate amino... OMIM:300842
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Edema, Myoclonus, Short nose, Tapered finger OMIM:617507
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, P... OMIM:606482
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera... ORPHA:478029
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ep... OMIM:256550
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Roifman Syndrome
Short toe, Underdeveloped nasal alae, Narrow nose, Irregular femoral epiphysis, Anteverted nares,... OMIM:616651
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle weakness, Diffic... OMIM:607155
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Dysmet... ORPHA:96
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Myopathy, Cirrhosis, Rod-cone dystrophy,... ORPHA:14
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Intrauterine growth retardation, Transient neonatal diabetes mellitus, Severe fail... OMIM:601410
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Delayed puberty, Clinodactyly of... ORPHA:217340
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... OMIM:310200
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Elevated circulating luteinizing hormone level, Reduced circu... OMIM:300845
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Short distal phalanx of finger, Small for gestational age, Clinodactyly, Failure t... OMIM:614261
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Recurrent fever, Hypopituitarism, Hepatosplenomegaly, Hypersplenis... ORPHA:231226
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Filippi Syndrome
Wide nasal bridge, Optic atrophy, 2-4 toe syndactyly, Visual impairment, Cerebellar atrophy, Fing... OMIM:272440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Tr... ORPHA:300536
De Sanctis-Cacchione Syndrome
Severe short stature, Optic atrophy, Spasticity, Global brain atrophy, Bilateral coxa valga, Cere... OMIM:278800
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve... ORPHA:101077
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Hypertonia, Short statur... ORPHA:1495
Foxp1 Syndrome
Decreased circulating iron concentration, Spasticity, Broad nasal tip, Recurrent upper respirator... ORPHA:391372
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postnatal grow... OMIM:615419
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Sensory axonal neuropathy, Acute hepatic failure, Gait ataxia, Myoclonus, Dysmetri... ORPHA:254881
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Optic atrophy, Spasticity, Bifid nasal tip, Cerebral cortical atrophy, Tremor,... OMIM:300983
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal metacarpal morp... ORPHA:2370
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Weiss-Kruszka Syndrome
Abnormal heart morphology, Decreased response to growth hormone stimulation test, Prominent nasal... ORPHA:502430
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... OMIM:613877
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Underdeveloped nasal alae, Hippocampal atrophy, Postnatal growth... ORPHA:353298
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fib... ORPHA:352447
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Elevated circulating thyroid-stimulat... ORPHA:90673
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Genu valgum, Myopathy, Reduced visual acuity, Hypo... OMIM:219800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability ... OMIM:218000
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Inability to walk, Elevat... OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Dyschromatopsia, Muscle fiber atrophy, Mitral reg... OMIM:258450
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyr... OMIM:615924
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... OMIM:615959
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Loss of ambulation, Peripheral axonal neuropathy, Spastic ataxia, Unsteady ga... ORPHA:137898
Reticular Dysgenesis
Failure to thrive, Fever, Aplasia/Hypoplasia of the thymus, Abnormality of mitochondrial metaboli... ORPHA:33355
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Elevated circulating propionylcarnitine concentration, Cer... OMIM:614857
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Small hand, Dilated cardiomyopathy, Broad nasal tip, Type II diabetes melli... ORPHA:401923
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Decreased liver function, Elevated circulating phytanic acid concentration, V... OMIM:614867
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Dysmetria, Tremo... OMIM:164500
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Aortic regurgitation, Precocious puberty, Finger syndactyly, Sandal gap, Obesit... ORPHA:254346
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Generalized dystonia, Recurrent fever, Neurodegeneration, Cerebral atroph... OMIM:618321
Riboflavin Transporter Deficiency
Color vision defect, Cerebral cortical atrophy, Abnormality of macular pigmentation, Skeletal mus... ORPHA:97229
Beta-Thalassemia Major
Hypoplasia of the musculature, Recurrent fever, Hypopituitarism, Hepatosplenomegaly, Hypersplenis... ORPHA:231214
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Postnatal growth retardation... ORPHA:391417
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia, Wide nasal bridge, Congestive hea... OMIM:617303
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Prominent nasal tip, Ataxia, Dy... OMIM:618218
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Spastic paraparesis,... ORPHA:369891
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Spastic tetraparesis OMIM:619470
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Cone/cone-rod dystrophy, Lingual dystonia, Hepatomegaly, Optic disc pallor, Hypotr... ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu... OMIM:616501
Autosomal Agammaglobulinemia
Cellulitis, Fever, Failure to thrive, Hepatitis, Dehydration ORPHA:33110
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hypotension, Hepatitis, Cardiomyopathy, Fever, C... ORPHA:292
Meningococcal Meningitis
Hypotension, Fever, Shock, Hypothermia, Lethargy, Papilledema, Increased circulating procalcitoni... ORPHA:33475
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cardiomyopathy, Hypoglycemia, Cerebra... OMIM:617710
Miller-Dieker Syndrome
Cerebral cortical atrophy, Anteverted nares, Omphalocele, Ataxia, Polyhydramnios, Clinodactyly of... ORPHA:531
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Chronic Hiccup
Weight loss, Dehydration, Abnormality of the diaphragm ORPHA:396
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Postnatal growth retardation, A... ORPHA:7
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Chorioretinal coloboma, Abnorma... ORPHA:284169
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Depressed nasal bridge, Failure to thrive, Cerebral palsy, Short nose, Intrauterin... OMIM:619833
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Myopathy, Telangiectasia, Foot polydactyly, Short f... ORPHA:1606
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Spasticity, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites,... OMIM:614702
Stickler Syndrome Type 1
Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Visual loss, Mitral valve... ORPHA:90653
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Multiple joint contractures, Tremor, Ankle clon... ORPHA:521406
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Developmental And Epileptic Encephalopathy 78
Spasticity, Cerebral palsy, Inability to walk, Chorea, Hypothermia, Cerebral visual impairment OMIM:618557
Congenital Tufting Enteropathy
Cholestatic liver disease, Choanal atresia, Failure to thrive, Optic disc coloboma, Weight loss, ... ORPHA:92050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Decreased activity ... OMIM:256810
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Anteverted nares, Gait ataxia, ... OMIM:617810
Central Diabetes Insipidus
Failure to thrive, Fever, Hyponatremia, Lethargy, Weight loss, Diabetes insipidus, Dehydration ORPHA:178029
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Constriction of peripheral visual field, Tremor, Intrinsic hand m... OMIM:304700
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Spontaneous Periodic Hypothermia
Hypothermia, Tremor, Arrhythmia, Gait disturbance, Ataxia ORPHA:29822
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, A... ORPHA:280679
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Preaxial hand polydactyly, Thyroid carcinoma, Hepatic steatosis, Multiple... ORPHA:210548
Beta-Ketothiolase Deficiency
Spasticity, Hypotension, Edema, Hypoglycemia, Fever, Hyperglycemia, Hyperammonemia, Hyperuricemia... ORPHA:134
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Hepatic steatosis, Eleva... OMIM:617253
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Failure to thrive, H... ORPHA:436271
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Visual loss, Cone/cone-rod dystrophy, Vent... OMIM:249270
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Abnormality of vision, Failure to thrive, Cereb... ORPHA:442835
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, Fai... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Incoordination, Obesity, Decreased activity of mitochondrial complex I... OMIM:614947
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Wide nasal bridge, Depressed nasal bridge, Tetralogy of Fallot, Overlappi... OMIM:618316
Sialidosis Type 1
Wide nasal bridge, Skeletal muscle atrophy, Cherry red spot of the macula, Decreased nerve conduc... ORPHA:812
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Elevated circulating hepatic transaminase concentration, Congenital contracture, E... OMIM:615042
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Tip-to... ORPHA:3008
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Broad-based gait, Spastic paraparesis, Clinodactyly, Hypoglycemia, Anteverted nar... ORPHA:391408
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Diplopia, Cerebellar atrophy, Cardiomyopathy, Congestive heart failure, Limb ataxi... OMIM:619259
Andersen-Tawil Syndrome
Small hand, Periodic hypokalemic paresis, Polymorphic and polytopic ventricular extrasystoles, To... ORPHA:37553
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Small for gestational age, Broad nasal tip, Clinodactyly, Ce... OMIM:615583
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant d... ORPHA:79086
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Wide nasal bridge, Precocious puberty, Dilated cardiomyopathy, Aplasia of the phalanges of the 3r... ORPHA:2229
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Joint contracture of the hand, Elevated circulating long chain fatty acid... OMIM:214110
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Loss of ambulation, Peripheral axo... ORPHA:2388
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Hyperglycemia, Constriction of peripheral visual field, T... OMIM:520000
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Failure to thrive in infancy, Abnormal circulating aldosterone... ORPHA:171876
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Failure to thrive, Abnormal heart morphology, Bulbous... ORPHA:485405
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Fever, Hypoglycemia, Failure to thrive, Elevated circulating thyroid-stimulating... OMIM:617872
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:151660
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Optic atrophy, Spasticity, Depressed nasal bridge, Failure to thrive, Elevated... OMIM:613457
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Cerebellar atrophy, Inability to walk, Short stature, Spastic tetraparesi... ORPHA:438178
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Spastic paraplegia, Cardiomyopathy, Constriction of peripheral visual field, Motor... ORPHA:1215
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Difficulty walking, Mitral regurgitation,... OMIM:300280
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Flared metaphysis, Hypertrophic cardiomyopathy, Ascites, Decreased fibular dia... OMIM:616897
Viss Syndrome
Genu valgum, High myopia, Mitral valve prolapse, Ventricular septal defect, Arachnodactyly, Contr... OMIM:619472
Burn-Mckeown Syndrome
Wide nasal bridge, Abnormality of vision, Bilateral choanal atresia, Prominent nasal bridge, Abno... ORPHA:1200
Adrenomyeloneuropathy
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Adrenal insufficiency, Very lo... ORPHA:139399
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Tetraparesis, Episodic hemiplegia, Abnormal T-wave, Chorea, Ca... ORPHA:2131
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, M... OMIM:128100
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular sep... ORPHA:2710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Increased circulating prolactin concentration, Hypothermia, Ventricular septal ... ORPHA:438213
Vici Syndrome
Depressed nasal bridge, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, O... OMIM:242840
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Tricuspid regurgitation, Bulbous nose, Oligohydramnios, Congenital diaphr... OMIM:614437
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Broad nasal tip, Short toe, Prominent fingertip pa... OMIM:602342
Friedreich Ataxia
Spasticity, Hand muscle atrophy, Reduced visual acuity, Impaired visually enhanced vestibulo-ocul... ORPHA:95
Pontocerebellar Hypoplasia, Type 2E
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Facial telang... OMIM:615851
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Spasticity, Broad nasal tip, Failure to thrive, Decreased muscle mass... ORPHA:357074
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Optic atrophy, Spasticity, Abnormal mitochondrial shape, Cerebellar atrophy, Failure to thrive, B... ORPHA:543470
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Global brain atrophy, Skeletal muscle atrophy, Clinodactyly, Abnormal circulat... ORPHA:488632
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:615895
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Short foot, Short nose OMIM:300577
Cockayne Syndrome Type 1
Difficulty walking, Postnatal growth retardation, Ataxia, Hepatomegaly, Visual impairment, Male h... ORPHA:90321
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Pigmentary retinopathy, Growth delay, Lipoma, Inc... ORPHA:502423
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Immunodeficiency 87 And Autoimmunity
Recurrent fever, Biventricular hypertrophy, Cholestasis, Hepatic steatosis, Elevated circulating ... OMIM:619573
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Spasticity, Joint contracture of the hand, Failure to thrive, Decreased r... ORPHA:363528
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hyperglycinemia, Hyperammonemia, ... OMIM:251100
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Ventricular septal defect, Short nose ORPHA:261120
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Edema, Elevated circulating thyroid-sti... ORPHA:226316
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Aganglionic megac... ORPHA:95427
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:289494
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Anteverted nares, Ventricular septal defect, Clinodactyly of the 5th finger, ... OMIM:618506
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Mitral valve prolapse, Mitral regurgitation, Abnormal vitreous h... ORPHA:2556
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, High myopia, Congenital diaphragmatic ... OMIM:222448
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Anteverted nares, Mitral regurgitation, Ventricular septal defect, Hip dy... ORPHA:261250
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Perlman Syndrome
Wide nasal bridge, Abnormal pancreas morphology, Hyperinsulinemia, Anteverted nares, Inguinal her... ORPHA:2849
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Depressed nasal bridge, Failure to thrive, Inability to walk, Ce... OMIM:617988
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv... ORPHA:70591
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a... OMIM:619473
Alg3-Cdg
Abnormality of the nose, Decreased liver function, Spastic tetraparesis, Cardiomyopathy, Abnormal... ORPHA:79321
Distal Duplication 5Q
Absent thumb, Chorioretinal coloboma, Prominent nasal bridge, Ventricular septal defect, Hernia, ... ORPHA:96097
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Postnatal growth retardation, Hyponatremia, Elevated serum 11-deo... ORPHA:556030
Rhiny
Anteverted nares, Inguinal hernia, Short nose OMIM:180360
Refsum Disease
Anosmia, Abnormality of vision, Abnormal epiphysis morphology, Skeletal muscle atrophy, Cardiomyo... ORPHA:773
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Postnatal gro... ORPHA:96191
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Mitral regurgitation, Ventricular septal defect, Elevated circul... OMIM:614866
Danon Disease
Limb muscle weakness, Visual impairment, Skeletal muscle autophagosome accumulation, Hypertrophic... OMIM:300257
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypothermia, Rhabdomyolysis, Arrhythmia, Tachycardia, Hyperkalemia, Chorea, Hy... ORPHA:94093
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de... OMIM:618348
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Visual impairment, Color vision defect, Global brain atrophy, Inability ... ORPHA:52368
Alexander Disease
Precocious puberty, Spasticity, Hypotension, Diplopia, Failure to thrive, Chorea, Hypothermia, Tr... ORPHA:58
Oligomeganephronia
Secundum atrial septal defect, Optic disc coloboma, Elevated circulating creatinine concentration... ORPHA:2260
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Hernia, Flexion con... OMIM:193700
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Toe syndactyly, Failure to thrive ... ORPHA:819
Warburg Micro Syndrome 3
Optic atrophy, Cerebral cortical atrophy, Decreased muscle mass, Inability to walk, Postnatal gro... OMIM:614222
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia, Hypoglycemia OMIM:615026
Lipodystrophy, Familial Partial, Type 7
Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Clonus, Loss of subcutaneous adi... OMIM:606721
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Decreased circulating carnitine concentration, Fever, Hypoglycemia, Elevated circulat... OMIM:246450
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Tremor, Dysmetria, Elev... OMIM:618387
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Narrow nasal bridge, Inguinal hernia, Edema of... ORPHA:544503
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Elevated circulating ... OMIM:620300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Hypertension, Failure to thrive, Dehydration OMIM:616069
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Broad-based gait, Broad thumb, Spasticity, Abnormal heart morphology, Prominen... OMIM:300978
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Malonyl-Coa Decarboxylase Deficiency
Short stature, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, Cerebellar atrophy, Postural tremor, Dysmet... OMIM:607694
Wiedemann-Rautenstrauch Syndrome
Spasticity, Increased circulating prolactin concentration, Slender build, Increased serum estradi... ORPHA:3455
Infantile Neuronal Ceroid Lipofuscinosis
Progressive visual field defects, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cere... ORPHA:79263
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Secundum atrial septal defect, Elevated circulating S-adenos... OMIM:614300
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
3-Methylglutaconic Aciduria Type 7
Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cardiomy... ORPHA:445038
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Wide distal femoral... OMIM:613320
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Elevated circulating hepatic transaminase concentration, Contractures of the large... ORPHA:329178
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal amyotrophy, Increa... OMIM:617675
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Cerebral cortical atrophy, Decreased liver function, Cardiomyopathy, Polyh... OMIM:614922
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Failure to thrive, Lethargy, Weight loss, Hyperc... OMIM:143880
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Anteverted nares, Postnatal growt... ORPHA:480907
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Contracture of the proximal interphalangeal joint of the 2nd finger, High myopia, Ventricular sep... OMIM:300998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Hepatic steatosis, Ataxia, He... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Increased mitochondrial number, Intrauterine growth retardation, Oligohy... OMIM:615578
Arterial Tortuosity Syndrome
Arachnodactyly, Hip dislocation, Short nose, Hypertrophic cardiomyopathy, Avascular necrosis of t... ORPHA:3342
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Anteverted nares, Short nose ORPHA:2015
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Broad-based gait, Elevated circulating hepatic transaminase conce... ORPHA:2959
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Anteverte... ORPHA:1914
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
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
Hurler Syndrome
Neurodegeneration, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regurgitation, Hernia, ... OMIM:607014
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Depressed nasal bridge, Spasticity, Broad nasal tip, Cardiom... ORPHA:79255
Distal Deletion 10Q
Spasticity, Clinodactyly, Postnatal growth retardation, Clonus, Atrial septal defect, Ataxia, Uns... ORPHA:96148
Friedreich Ataxia
Optic atrophy, Decreased pyruvate carboxylase activity, Decreased amplitude of sensory action pot... OMIM:229300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Chorioretinal coloboma, Recurrent fever, Neurodegeneration, Periphe... OMIM:619475
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Inguinal hernia, Hepatic steatosis, Mitral valve prolapse,... OMIM:236200
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Flattened epiphysis, Advanced ossific... OMIM:251450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal... OMIM:613870
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Atrial fibrillation, Increased variability in muscle fiber diameter, Elevated... OMIM:613327
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Retinopathy, Tremor, Ataxia, Clinodactyly of the 5th finger, Dys... OMIM:619422
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Macroglossia, Congestive heart failure, Abnormal heart morphology... ORPHA:505248
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased liver function, Recurrent fever, Decreased nerve conduction velocity, Sh... OMIM:614863
Peho Syndrome
Optic atrophy, Cerebellar atrophy, Peripheral dysmyelination, Myoclonus, Edema of the dorsum of h... OMIM:260565
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Broad-based gait, Toe syndactyly, Overlapping toe, Ventricular septal defe... OMIM:601808
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Type I diabetes mellitus, Abnormality of mitochondrial metabolism, Tre... ORPHA:1192
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Enteric Anendocrinosis
Cholestatic liver disease, Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Hepatic failure, Ascites, Intrauterine growth retardation, Hepatosplenome... OMIM:608013
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Cerebral atrophy, Hepatic steatosis, Neonatal death, Hyperprolinem... OMIM:615918
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased motor nerve conduction velocit... ORPHA:298
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Failure to thrive, Chorioretinal coloboma, Postnatal gr... OMIM:243310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal fibrosis, ... ORPHA:264580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Dyschromatopsia, Difficul... ORPHA:466768
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Congenital hepatic fibrosis, Cirrhosis, Ataxia, Hepatomegaly, Visual impa... ORPHA:1454
Refsum Disease, Classic
Anosmia, Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentrati... OMIM:266500
Pde4D Haploinsufficiency Syndrome