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Gene: Serac1 MGI:2447813

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Gene Summary

Name:
serine active site containing 1
Synonyms:
D17Ertd141e,  4930511N22Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased vertical activity Serac1em1(IMPC)Tcp HOM   Early adult 4.72×10-06
decreased locomotor activity Serac1em1(IMPC)Tcp HOM   Early adult 7.40×10-06
increased freezing behavior Serac1em1(IMPC)Tcp HOM Early adult 2.00×10-06
enhanced contextual conditioning behavior Serac1em1(IMPC)Tcp HOM Early adult 6.90×10-05
enlarged lymph nodes Serac1em1(IMPC)Tcp HOM Early adult 0.00
abnormal freezing behavior Serac1em1(IMPC)Tcp HOM   Early adult 6.16×10-05
decreased exploration in new environment Serac1em1(IMPC)Tcp HOM Early adult 4.04×10-10
abnormal ovary morphology Serac1em1(IMPC)Tcp HOM Early adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

84 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Human diseases caused by Serac1 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 Serac1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Hypoglycemia, Encephalopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Sensori... OMIM:614739

The table below shows human diseases predicted to be associated to Serac1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Cardiomyopathy, Decreased activity of mitochondrial complex IV, Supraventricula... OMIM:255100
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Recurrent hypoglycemia, Enc... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 38
Low-set ears, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase compl... OMIM:618378
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Decreased activity of mitochondrial complex IV, Hypert... OMIM:616500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Distal upper limb muscle weaknes... ORPHA:63273
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Dicarboxylic aciduria, Encephalopathy, Decreased activity of mitochondrial complex IV, Elevated c... OMIM:619355
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Encephalopathy, Myopathy, Decreas... OMIM:618237
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Encephalopathy, Myopathy, Decreased activi... OMIM:618234
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Encephalopathy, Decreased activi... OMIM:618120
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... ORPHA:228305
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Poor head control, Skeletal muscle atrophy, Hearing impairment, Methylmalonic aciduria, Hypoglyce... OMIM:245400
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level ... ORPHA:26792
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Encephalopathy, Rhabdomyolysis, Proximal muscle we... ORPHA:26791
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Encephalopathy, Decre... OMIM:618235
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, De... OMIM:617184
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Arrhythmia, Ventricular fibrillation, ST segment ... ORPHA:263297
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Hypertrophic cardiomyopathy, Encephalopathy, Biventricular hypertrophy, Myopathy, ... OMIM:618236
Hsd10 Mitochondrial Disease
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Eleva... OMIM:300438
Systemic Primary Carnitine Deficiency
Elevated circulating hepatic transaminase concentration, Neck muscle weakness, Acute encephalopat... ORPHA:158
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Decreased activity of mitochondrial ATP synthase complex, Encephalopathy, 3-Methyl... ORPHA:505216
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Congestive heart failure, Encephalopathy, Ragged-re... OMIM:540000
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Ankle weakness, He... ORPHA:98912
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Hearing impairment, Decreased activity of mitochondrial ATP synthase complex, Decr... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Oliguria, Decreased circulatin... ORPHA:159
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl... OMIM:618654
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Encephalopathy, Decreased activity of mitochondrial complex IV, Pulmona... OMIM:616045
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Encephalopathy, Decreased activity of mitochondrial complex I, Hypertrophic cardio... OMIM:618229
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Encephalopathy, Ventricular septal defect, Elevat... OMIM:613759
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... OMIM:231530
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:1349
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Multiple joint contractures, Myopathy, Progressive external ophth... ORPHA:352470
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Epileptic encephalopathy, Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyp... OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Decreased activity of mitochondrial complex I, Encephalopathy, Myopathy OMIM:618246
Spastic Paraplegia Type 7
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, ... ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Encephalopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Progr... ORPHA:399103
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... OMIM:201475
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... OMIM:613752
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epileptic encephalopathy, Optic atrophy, Distal amyotrophy, Hearing impairment, Encephalopathy, E... OMIM:271245
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... ORPHA:42
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Combined Oxidative Phosphorylation Defect Type 27
Epileptic encephalopathy, Hearing impairment, Decreased activity of mitochondrial complex IV, Rag... ORPHA:477774
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Decreased a... OMIM:613561
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:246900
Gaucher Disease Type 2
Encephalopathy, Splenomegaly, Ophthalmoplegia, Hepatomegaly, Cardiac arrest, Flexion contracture ORPHA:77260
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Encephalopa... ORPHA:254913
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EEG with burst suppressi... OMIM:617713
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Encephalopathy, Hypertriglyceridemia OMIM:615924
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia, Encephalopathy, Hepatomegaly, Increased serum pyruvate OMIM:614741
Isolated Complex I Deficiency
Proximal tubulopathy, Hypoglycemia, Hypertrophic cardiomyopathy, Encephalopathy, Sensorineural he... ORPHA:2609
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... OMIM:302060
Fadd-Related Immunodeficiency
Hepatic fibrosis, Encephalopathy, Decreased liver function, Ventricular septal defect ORPHA:306550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Abnormal circulating creatine kinase concentration,... OMIM:617519
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Decreased activity of mitochondrial ATP synthase complex, 3-Methylglutaconic aciduria, Encephalop... OMIM:615228
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Combined Oxidative Phosphorylation Deficiency 36
Low-set ears, Aciduria, Lower limb muscle weakness, Hypoglycemia, Elevated circulating aspartate ... OMIM:617950
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Crigler-Najjar Syndrome, Type I
Encephalopathy, Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated h... OMIM:218800
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Encephalopathy, Optic atrophy, Muscle weakness, Sensorineural hearing impairment ORPHA:1171
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Encephalopathy, Hyperglycinemia, Generalized muscle weakness, Beta-aminoisobutyric... OMIM:615330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Decreased acti... OMIM:619003
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Mitochondrial Complex I Deficiency, Nuclear Type 8
Encephalopathy, Optic disc pallor, Pancreatitis, Decreased activity of mitochondrial complex I OMIM:618230
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Distal amyotrophy, Encephalopathy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:617207
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Increased variability in muscle fiber diameter, Mitochondrial swelling, Elevat... OMIM:615595
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Encephalopathy, EEG abnormality, Bradycardia... OMIM:618815
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Infantile encephalopathy, Skeletal muscle atrophy, Myopathy, Weakness of facial... ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Encephalopathy,... OMIM:607426
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Bulbar palsy, Abnormal mitochondrial morphology, Bilateral sensorineura... ORPHA:275872
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Elevat... OMIM:615158
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Encephalopathy, Decreased activity of mitochondri... ORPHA:17
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy, Progressive... ORPHA:496756
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, EEG with burst suppression, Hypertrophic cardiomyopathy, Decrease... OMIM:615917
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia, Hepatomegaly ORPHA:35
Squalene Synthase Deficiency
Low-set ears, Hypospadias, Elevated urine mesaconic acid level, Elbow flexion contracture, Hypoch... OMIM:618156
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Progressive distal muscle weakness, Multiple joint contracture... ORPHA:98911
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhyth... ORPHA:320360
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Hyperglycinemia, Decreased activity of mitochondrial complex IV, ... OMIM:619063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Aicardi-Goutieres Syndrome 3
Encephalopathy, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration OMIM:610329
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Encephalopathy OMIM:618224
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormality of mito... ORPHA:391428
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Lacti... ORPHA:79246
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Dil... ORPHA:263494
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di... ORPHA:289504
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ... OMIM:619167
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Elevated circulating hepatic transamin... OMIM:615471
Phenylketonuria
Encephalopathy, Phenylalaninuria, Hyperphenylalaninemia, EEG abnormality ORPHA:716
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Encephalopathy, Decreased nerve conduction velocity, Sensorineural heari... OMIM:614932
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Abnormal heart morphology, Hypertrophic cardiomyopathy, Stage 5 chronic k... OMIM:618250
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decr... OMIM:500013
Developmental And Epileptic Encephalopathy 97
Poor head control, Epileptic encephalopathy, Hypsarrhythmia OMIM:619561
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Cardiomyopathy, Distal muscle weakness OMIM:610100
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... OMIM:617336
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Decreased nerve conduction velocity, Mitochondrial respiratory chain d... ORPHA:319514
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Epileptic encephalopathy, Hypoalbuminemia, Hypocholesterolemia, Pericardial effusio... OMIM:608776
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy... OMIM:612954
Cerebral Creatine Deficiency Syndrome 3
Gowers sign, Organic aciduria OMIM:612718
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increa... OMIM:256550
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Proximal muscle weakness, Proximal amyotrophy, Elevated jugular venous... OMIM:255160
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Elevated circulating phytanic acid concentration, Sensorineural hearing impa... OMIM:266510
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Hyperlysinuria, Encephalopathy, Elevated circulating 2-trans,4-cis-decadienoylcarn... OMIM:616034
Developmental And Epileptic Encephalopathy 35
Encephalopathy, Cardiomyopathy OMIM:616647
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Patent Ductus Venosus
Persistent patent ductus venosus, Decreased liver function, Congenital portosystemic venous shunt... OMIM:601466
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... OMIM:605911
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:619064
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly, Jaundi... OMIM:230350
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Mitchell Syndrome
Encephalopathy, Limb muscle weakness, Abnormal autonomic nervous system physiology, Respiratory i... OMIM:618960
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Ketonuria, Lower limb muscle weakness, Rhabdomyolysis, 3-Methylglutaconic aciduria... OMIM:251900
Developmental And Epileptic Encephalopathy 30
Epileptic encephalopathy, Hypsarrhythmia, Encephalopathy OMIM:616341
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Vertigo, Encephalopathy, Ophthalmoplegia, Left... OMIM:614458
Neutral Lipid Storage Myopathy
Neck muscle weakness, Hepatic steatosis, Myopathy, Sensorineural hearing impairment, Hepatomegaly... ORPHA:98908
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopath... OMIM:252011
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Myopathy, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, ... ORPHA:157
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... ORPHA:171439
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Encephalopathy, De... OMIM:610505
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Proximal muscle weakness, Hearing impairment, Oligosacchariduria, Muscle weakness, Hypertrophic c... ORPHA:308552
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Hypertrophic cardiomyopathy, Decreased activity of the pyruvate dehydrogenase... OMIM:616277
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Melas
Nephropathy, Encephalopathy, Type II diabetes mellitus, Myopathy, Sensorineural hearing impairmen... ORPHA:550
Potocki-Lupski Syndrome
Hearing impairment, Hypocholesterolemia, Patent foramen ovale, Abnormal renal morphology, EEG abn... OMIM:610883
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Decreased activity of mitochondrial ATP synthase complex, 3-Meth... OMIM:604273
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Eleva... OMIM:610198
Hyperekplexia 4
Encephalopathy, Distal arthrogryposis, Hypsarrhythmia, Camptodactyly, Flexion contracture, Abnorm... OMIM:618011
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Encephalopathy, Hypocholesterolemia, Hepatomegaly, Micropenis OMIM:618810
Leigh Syndrome
Decreased activity of mitochondrial complex IV, Myopathy, Sensorineural hearing impairment, 3-Met... ORPHA:506
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Mitochondrial Complex I Deficiency, Nuclear Type 1
Sensorineural hearing impairment, Hepatomegaly, Decreased activity of mitochondrial complex III, ... OMIM:252010
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly, Joint contracture, Multifocal epileptiform discharges... OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma... OMIM:609452
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic ... OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Decreas... OMIM:619170
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Ethanolaminosis
Cardiomegaly OMIM:227150
Sengers Syndrome
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, 3-Methylglutaconic a... OMIM:212350
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
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
Combined Oxidative Phosphorylation Deficiency 42
Hearing impairment, Decreased liver function, Hypoglycemia, Cardiomyopathy, Decreased activity of... OMIM:618839
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, 3-Methylgl... OMIM:614053
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Hearing impairment, Decreased activity of mitochondrial complex I, Limb hypert... OMIM:618247
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotr... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Poor head control OMIM:618243
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Decreased liver function, Congestive heart failure, Abnorma... ORPHA:70472
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... OMIM:300376
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointersti... ORPHA:228308
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Developmental And Epileptic Encephalopathy 60
EEG with burst suppression, Epileptic encephalopathy, Hypsarrhythmia OMIM:617929
Developmental And Epileptic Encephalopathy 45
Epileptic encephalopathy, Hypsarrhythmia OMIM:617153
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hearing impairment, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic steatosis, Rhabdo... OMIM:124000
Hsd10 Disease, Neonatal Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the liver, Hypertrophic card... ORPHA:391457
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Decreased activity of mitochondrial comple... OMIM:615440
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Myopathy, Sensorineural hearing impairment, Progressive external o... ORPHA:1215
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Skeletal muscle atrophy, Hearing impairment, Methylmalonic aciduria, Facial dipleg... OMIM:612073
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Developmental And Epileptic Encephalopathy 7
EEG with burst suppression, Epileptic encephalopathy OMIM:613720
Developmental And Epileptic Encephalopathy 59
Multifocal epileptiform discharges, Epileptic encephalopathy, Hypsarrhythmia, Poor head control OMIM:617904
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... OMIM:615453
Developmental And Epileptic Encephalopathy 70
Low-set ears, Epileptic encephalopathy, Hypsarrhythmia, Poor head control, Flexion contracture OMIM:618298
Glycine Encephalopathy 1
Encephalopathy, Hyperglycinemia, Hyperglycinuria OMIM:605899
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Cardiomyopathy, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elev... ORPHA:324525
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Epileptic encephalopathy, Hypsarrhythmia, Multifocal epilep... ORPHA:599373
3-Methylglutaconic Aciduria Type 4
Hearing impairment, Hypoglycemia, Cardiomyopathy, Decreased liver function, 3-Methylglutaconic ac... ORPHA:67048
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy, Elevated circulating creatine kinase ... OMIM:609500
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepati... OMIM:300280
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... OMIM:125250
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, External ophthalmoplegia, Hearing impairment, Cardiomyopathy, Hand muscle weakness... ORPHA:254886
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Developmental And Epileptic Encephalopathy 69
Epileptic encephalopathy, Congenital contracture, Hypsarrhythmia, EEG abnormality, Arthrogryposis... OMIM:618285
Infantile Refsum Disease
Optic atrophy, Hearing impairment, Cardiomyopathy, Elevated circulating phytanic acid concentrati... ORPHA:772
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... ORPHA:171442
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Epileptic encephalopathy, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Proximal ... OMIM:615352
Danon Disease
Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper... OMIM:300257
Developmental And Epileptic Encephalopathy 58
Epileptic encephalopathy, Hypsarrhythmia, Optic atrophy OMIM:617830
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird... OMIM:609308
Episodic Ataxia, Type 9
Vertigo, Encephalopathy, Paroxysmal vertigo OMIM:618924
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Myopathy, Hepatomegaly, Cirrhosis, Hyper... ORPHA:363400
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased activity... OMIM:616198
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Hearing impairment, Cardiomyopathy... ORPHA:329336
Glycogen Storage Disease Ii
Hearing impairment, Limb muscle weakness, Proximal muscle weakness, Hepatomegaly, Urinary inconti... OMIM:232300
Lennox-Gastaut Syndrome
Vertigo, Encephalopathy, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Sarcosinemia
Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis, Infantil... ORPHA:3129
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Hearing impairment, Cardiomyopathy, Neck... OMIM:610717
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Ophthalmoparesis, Acute hepatic failure, EEG with occipital epileptiform discharge... ORPHA:254881
Combined Oxidative Phosphorylation Deficiency 27
Epileptic encephalopathy, Hearing impairment, Decreased activity of mitochondrial complex IV, Hyp... OMIM:616672
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Encephalopathy, Hypsarrhythmia, Abnormality of mitochondrial metabolism ORPHA:88639
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Organic aciduria, Neck muscle weakness, Limb muscle weakness, Sensorineural hearin... OMIM:614707
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Ophthalmoparesis, Prolinuria, Hydroxyprolinuri... ORPHA:79101
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Combined Oxidative Phosphorylation Deficiency 57
Epileptic encephalopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopa... OMIM:620167
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Developmental And Epileptic Encephalopathy 62
Epileptic encephalopathy, Hypsarrhythmia OMIM:617938
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalan... OMIM:614702
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Hearing impairm... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 40
Hearing impairment, Decreased liver function, Hypoglycemia, Hypertrophic cardiomyopathy, Decrease... OMIM:618835
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Decreased ac... OMIM:620135
Developmental And Epileptic Encephalopathy 53
Epileptic encephalopathy, Hypsarrhythmia, Elevated circulating creatine kinase concentration OMIM:617389
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Spinocerebellar Ataxia, Autosomal Recessive 31
External ophthalmoplegia, Optic atrophy, Encephalopathy, Bilateral sensorineural hearing impairme... OMIM:619422
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex... OMIM:615418
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, External ophthalmoplegia, Encephalopathy, Abnor... OMIM:615838
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hearing impairment, Vertigo, Hypertrophic cardiomyopathy, Telangiectasia, Telangie... ORPHA:79279
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... OMIM:600649
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hepatic failure, Dilated cardiomyopathy, Ophthalmoparesis, Hypertrophic cardiomyop... ORPHA:255210
Developmental And Epileptic Encephalopathy 73
Epileptic encephalopathy, Flexion contracture, Sensorineural hearing impairment OMIM:618379
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Encephalopathy, Hypoglycemia OMIM:610090
Congenital Disorder Of Glycosylation, Type Iih
Encephalopathy, Elevated circulating aspartate aminotransferase concentration, Interface hepatiti... OMIM:611182
Lethal Infantile Mitochondrial Myopathy
Progressive external ophthalmoplegia, Renal insufficiency, Cardiomyopathy, Fatal liver failure in... ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 35
Epileptic encephalopathy, Decreased activity of mitochondrial complex I, Decreased activity of mi... OMIM:617873
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Increased urine alpha-ketoglutarate concentration, L-2-hydroxyglutaric aciduria, Encephalopathy, ... OMIM:615182
Developmental And Epileptic Encephalopathy 15
Epileptic encephalopathy, Hypsarrhythmia OMIM:615006
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Myopathy, Low-output congestive he... ORPHA:91130
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Fatigable weakness of swallowing muscles, Glycosuria, Decreased liv... ORPHA:436271
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Gait disturbance, Abnormality of the ovary ORPHA:1875
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Skeletal muscle atrophy, Hearing impairment, Encephalopathy, Neck muscl... OMIM:211530
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Dec... OMIM:620646
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Decreased motor nerve c... ORPHA:456312
Coenzyme Q10 Deficiency, Primary, 5
Encephalopathy, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy,... OMIM:614654
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Abnormal circulatin... OMIM:232500
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Cardiomyopathy, Acute e... OMIM:606054
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Encephalopathy, Decreased activity of the pyruvate dehydrogenase com... OMIM:614462
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Decreased nerve conduction velocity, Acute hepatitis, Hyperornithinemia... OMIM:238970
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Acute encephalopathy OMIM:618113
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Hypoglycemia, Encephalopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Sensori... OMIM:614739
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju... ORPHA:57777
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Optic atrophy, Intrahepatic cholestasis, Hepati... OMIM:606812
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated ci... OMIM:614921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Cardiomyo... OMIM:258450
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Hearing impairment, Cardiomegaly, Hepato... ORPHA:858
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Encephalopathy, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyper... ORPHA:927
Hsd10 Disease
Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Hearing impairment, Abnormal urinary acylg... ORPHA:391417
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Necrotizing encephalopathy OMIM:260970
Splenoportal Vascular Anomalies
Hepatic fibrosis, Chronic hepatic encephalopathy, Splenomegaly, Hyperammonemia, Cirrhosis, Anomal... OMIM:271500
Intellectual Developmental Disorder, Autosomal Dominant 5
Epileptic encephalopathy, EEG abnormality, Torticollis, Congenital muscular torticollis OMIM:612621
Developmental And Epileptic Encephalopathy 63
Poor head control, Epileptic encephalopathy, EEG with generalized epileptiform discharges, Conduc... OMIM:617976
Dpm1-Cdg
Optic atrophy, Muscular dystrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase co... ORPHA:79322
Cach Syndrome
Optic atrophy, Renal hypoplasia, Encephalopathy, Hepatosplenomegaly, Pancreatitis, Flexion contra... ORPHA:135
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypoglycemia, Encephalopathy, Hyperammonemia, Decreased activity of mitochondrial ... OMIM:618253
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Aicardi-Goutieres Syndrome 2
Encephalopathy OMIM:610181
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Ele... OMIM:613404
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:20
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... OMIM:618811
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... OMIM:309930
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Epileptic encephalopathy OMIM:618512
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers,... OMIM:615084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Aminoacylase 1 Deficiency
Acute encephalopathy, Bradycardia, Muscle weakness, Sensorineural hearing impairment OMIM:609924
Intellectual Developmental Disorder, Autosomal Dominant 46
Epileptic encephalopathy OMIM:617601
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c... ORPHA:431361
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Decreased activity of mitoch... OMIM:616896
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Glutaric Acidemia I
Glutaric aciduria, Infantile encephalopathy, Ketonuria, Elevated circulating glutaric acid concen... OMIM:231670
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Elevated circulating acylcarnitine concentration, Elevated circulating hepatic tra... OMIM:616878
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated c... ORPHA:1667
Diabetes And Deafness, Maternally Inherited
Abnormal vestibular function, External ophthalmoplegia, Cardiomyopathy, Vertigo, Hyperglycemia, T... OMIM:520000
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Palpitations, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoul... ORPHA:565612
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Elevated circulating hepatic transami... ORPHA:264580
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Optic atrophy, External ophthalmoplegia, Muscle weakness, Decreased... ORPHA:485421
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
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
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Increased circulating ferritin concentration, Cardiomyopathy, Hyperglycemi... ORPHA:465508
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Epileptic encephalopathy, Optic atrophy, Joint contracture OMIM:618324
Friedreich Ataxia
Optic atrophy, Decreased pyruvate carboxylase activity, Decreased amplitude of sensory action pot... OMIM:229300
Primary Non-Essential Cutis Verticis Gyrata
Encephalopathy, Abnormality of pattern visual evoked potentials, Atrial septal defect, Ventricula... ORPHA:357225
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Progressive hearing impairment, Limb muscle weakness, Ragged-red muscle fibers, P... OMIM:609286
Developmental And Epileptic Encephalopathy 107
Epileptic encephalopathy OMIM:620033
Coenzyme Q10 Deficiency, Primary, 9
Encephalopathy, Type 2 muscle fiber predominance OMIM:619028
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugate... OMIM:269920
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Epileptic encephalopathy, Decreased liver function, Cardiomyopathy, Hypsarrhythmia... OMIM:618437
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Limb-girdle muscular dystrophy, Type I diabetes mellitus, Hypocholesterolemia, Abe... ORPHA:96180
Developmental And Epileptic Encephalopathy 88
Epileptic encephalopathy, Hypsarrhythmia, Hyperglutamatemia OMIM:618959
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Cardiomyopathy OMIM:619651
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu... OMIM:601455
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Encephalopathy, External ophthalmoplegia, Decreased activity of mitochondrial comp... OMIM:618233
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Enceph... ORPHA:445038
Immunodeficiency 44
Encephalopathy, Elevated circulating alanine aminotransferase concentration OMIM:616636
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Hypoketotic hyp... ORPHA:746
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:252920
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Glutaric aciduria, Infantile encephalopathy, Cardiomyopathy, Hypsarrhythmia... OMIM:600721
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy... ORPHA:368
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, C... ORPHA:98907
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Severe Neonatal-Onset Encephalopathy With Microcephaly
Multifocal epileptiform discharges, Encephalopathy, EEG with focal slow activity ORPHA:209370
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Hyperprolinemia, Hyperalaninemia,... OMIM:619046
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Epileptic encephalopathy, EEG abnormality OMIM:617820
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aci... OMIM:251110
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... OMIM:616483
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abn... ORPHA:1194
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... ORPHA:79230
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Ravine Syndrome
Progressive encephalopathy, Abnormal auditory evoked potentials ORPHA:99852
Folinic Acid-Responsive Seizures
Optic atrophy, Encephalopathy, Sensorineural hearing impairment, Hypsarrhythmia, EEG with general... ORPHA:79097
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Encephalopathy, EEG abnormality, Macrotia OMIM:617268
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphr... ORPHA:868
Developmental And Epileptic Encephalopathy 12
Epileptic encephalopathy, Hypsarrhythmia OMIM:613722
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb ... OMIM:266500
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Schimke Immuno-Osseous Dysplasia
Nephropathy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Congestive he... ORPHA:1830
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Encephalopathy OMIM:620461
Combined Oxidative Phosphorylation Deficiency 5
Low-set ears, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase compl... OMIM:611719
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile encephalopathy ORPHA:263410
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Ophthalmoparesis, Glycosuria, Decreased liver function, Hypertrophi... OMIM:220110
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Lower limb muscle weakness, Generalized muscle weakness, Elevated circulating... ORPHA:365
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Congestive heart failure, Vertigo, Limb muscle weakness, 3-Methylg... OMIM:619259
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Low-set ears, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase compl... OMIM:614052
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Classic Glucose Transporter Type 1 Deficiency Syndrome
Encephalopathy, EEG abnormality ORPHA:71277
Endocardial Fibroelastosis
Abnormal helix morphology, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Lo... ORPHA:2022
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Hearing impairment OMIM:620270
Progressive Myoclonic Epilepsy With Dystonia
Epileptic encephalopathy, EEG with irregular generalized spike and wave complexes, Optic atrophy ORPHA:352596
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Fatigab... ORPHA:98909
Developmental And Epileptic Encephalopathy 11
Epileptic encephalopathy OMIM:613721
Multiple Mitochondrial Dysfunctions Syndrome 6
Poor head control, Epileptic encephalopathy, Optic atrophy, Hearing impairment OMIM:617954
Developmental And Epileptic Encephalopathy 55
Epileptic encephalopathy, Limb hypertonia, Hypsarrhythmia, Poor head control, Multifocal epilepti... OMIM:617599
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive hea... OMIM:620609
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... ORPHA:119
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy... OMIM:618228
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Encephalopathy, Increased serum pyruvate, Hyperalaninemia, EEG abnormality OMIM:617668
Developmental And Epileptic Encephalopathy 23
Epileptic encephalopathy, Hypsarrhythmia, Abnormal pinna morphology, Supravalvular aortic stenosis OMIM:615859
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Epileptic encephalopathy, Situs inversus totalis, Atrial septal defect OMIM:619881
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Encephalopathy, Flexion contracture, Posteriorly rotated ears OMIM:616281
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatosplenomegal... OMIM:619644
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Mu... ORPHA:206436
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic... ORPHA:85447
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu... OMIM:230400
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, External ophthalmoplegia, Distal amyotrophy, Skeletal muscl... ORPHA:3208
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia, Encephalopathy, Sensorineural hearing impairment, Hypsarrhythmia, Br... OMIM:220120
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prox... ORPHA:98896
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tric... OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, D... OMIM:604377
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Elevated circulating crea... OMIM:613155
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Tricuspid r... ORPHA:615
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Encephalo... ORPHA:79239
Scleromyxedema
Abnormality of central nervous system electrophysiology, Encephalopathy, Transient ischemic attac... ORPHA:167635
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Peho-Like Syndrome
Optic atrophy, Hypsarrhythmia, Infantile encephalopathy OMIM:617507
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Elevated circulating hepatic transaminas... ORPHA:88618
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Urinary bladder sphincter ... ORPHA:320401
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Muscle flaccidity ORPHA:34587
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Congestive heart fai... OMIM:310200
Developmental And Epileptic Encephalopathy 16
Epileptic encephalopathy, Optic atrophy OMIM:615338
Early Myoclonic Encephalopathy
Epileptic encephalopathy, Hypsarrhythmia, EEG abnormality ORPHA:1935
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Primary Sclerosing Cholangitis
Cholestasis, Encephalopathy, Hepatosplenomegaly, Acute hepatic failure, Abnormal biliary tract mo... ORPHA:171
X-Linked Neurodegenerative Syndrome, Bertini Type
Epileptic encephalopathy ORPHA:85334
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatitis, H... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Ophthalmoparesis, Hypoglycemia, Decreased activity of mitochondrial ... OMIM:620451
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
D-Glyceric Aciduria
Hyperglycinuria, Increased circulating free fatty acid level, Hearing impairment, Hyperglycinemia... ORPHA:941
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hearing impairment, Decreased liver function, Cardiomyopathy, Renal insufficien... OMIM:614922
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycin... OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Optic atrophy, Decreased activity of mitochondrial complex I, Hypogl... OMIM:618241
Glutamine Deficiency, Congenital
Low-set ears, Encephalopathy, Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexi... OMIM:610015
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, ... OMIM:249270
Alg1-Cdg
Hypoalbuminemia, Decreased liver function, Cardiomyopathy, Abnormal heart morphology, Renal insuf... ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Encephalopathy, Hyperammonemia OMIM:610678
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Myo... ORPHA:2348
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Urinary incontinence, Tubulointerstitial nephritis, Ve... ORPHA:358
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Fucosidosis
Hearing impairment, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Mucopoly... ORPHA:349
Developmental And Epileptic Encephalopathy 57
Epileptic encephalopathy, Hypsarrhythmia OMIM:617771
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Optic atrophy, Elev... ORPHA:416
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Elevated ... ORPHA:79282
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Organic aciduria, High-frequency heari... OMIM:619743
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Encephalopathy, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Stre... ORPHA:136
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi... ORPHA:85443
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Encephalopathy, Hypsarrhythmia, Limb hypertonia, EEG with multifocal slow activity... ORPHA:442835
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Epileptic encephalopathy, Type 1 muscle fiber pre... OMIM:612949
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Abnormal helix morphology, Elevated circulating lon... OMIM:214110
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Epileptic encephalopathy, Optic atrophy, Elevated circulating hepatic transaminase concentration,... ORPHA:329178
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Portal vein hypo... OMIM:619433
Mitochondrial Complex I Deficiency, Nuclear Type 9