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Gene: Serac1 MGI:2447813

Gene Summary

Name:

serine active site containing 1

Synonyms:

D17Ertd141e, 4930511N22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Serac1^em1(IMPC)Tcp	HOM	Early adult	3.88×10^-10
decreased locomotor activity	Serac1^em1(IMPC)Tcp	HOM	Early adult	7.09×10^-06
enlarged lymph nodes	Serac1^em1(IMPC)Tcp	HOM	Early adult	0.00
enhanced contextual conditioning behavior	Serac1^em1(IMPC)Tcp	HOM	Early adult	6.56×10^-05
decreased vertical activity	Serac1^em1(IMPC)Tcp	HOM	Early adult	4.67×10^-06
increased freezing behavior	Serac1^em1(IMPC)Tcp	HOM	Early adult	2.00×10^-06
abnormal freezing behavior	Serac1^em1(IMPC)Tcp	HOM	Early adult	5.15×10^-05
abnormal ovary morphology	Serac1^em1(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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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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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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.

Human diseases associated with Serac1 (1 diseases)
Human diseases predicted to be associated with Serac1 (1049 diseases)

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		Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic...	OMIM:614739

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

Disease	Matching phenotypes	Source
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Fatty replacement o...	OMIM:255100
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Ra...	ORPHA:457050
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular hepatic steatosi...	OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Elevated circulating dodecanoylcarnitine concentration, Elevated ...	OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch...	OMIM:616500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Fatiguable weakness of proximal limb muscles, Respiratory insufficiency due to muscle weakness, I...	ORPHA:63273
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ...	OMIM:609200
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Posteri...	OMIM:618378
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemic encephalopathy...	ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 15	Encephalopathy, Optic atrophy, Flexion contracture, Myopathy, Decreased activity of mitochondrial...	OMIM:618237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Decreased activity of mitochondrial ATP synthase complex, Hypoglycemia, Elevated circulating crea...	OMIM:618120
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy	OMIM:609016
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu...	ORPHA:99901
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra...	OMIM:245400
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemic encephalopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentrati...	ORPHA:26792
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Ventricular tachy...	ORPHA:263297
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3...	ORPHA:26791
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute encephalopathy, Neck muscle weakness, Muscle w...	ORPHA:158
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy, Biventricular hypertrophy, Myopathy, Decreased activity of mitochondrial complex I...	OMIM:618236
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Decreased activity of mitochondrial complex IV,...	OMIM:617184
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ophthalmoplegia, Rag...	OMIM:540000
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we...	OMIM:614065
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ...	ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Distal u...	ORPHA:603
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Generaliz...	OMIM:614096
3-Methylglutaconic Aciduria Type 9	Decreased activity of mitochondrial ATP synthase complex, Urinary incontinence, Optic atrophy, Hy...	ORPHA:505216
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Congenital Myopathy 8	Distal muscle weakness, Internally nucleated skeletal muscle fibers, Cardiomegaly, Proximal muscl...	OMIM:618654
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co...	OMIM:609560
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Sensorineural hearing impairment,...	OMIM:300438
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Left ventricular dias...	ORPHA:171445
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Decreased activity of mitochondrial complex I, Hypertr...	OMIM:618235
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Progressive external ophthalmoplegia, Congestive heart failure, Sensori...	ORPHA:1349
Mitochondrial Complex I Deficiency, Nuclear Type 7	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Optic atrophy, Enceph...	OMIM:618229
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic encephalopathy, Myoglobinuria, Dil...	OMIM:231530
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Poor head control, Decreased activity of mitochondrial respiratory chain, Dilated c...	OMIM:614299
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m...	OMIM:616045
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Decreased mitochondrial number, Multiple joint contractures...	ORPHA:352470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Encephalopathy	OMIM:615119
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Elevated circulating aspartate aminotransferase concentration, Hearing impairment, Fiber type gro...	OMIM:271245
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li...	OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, A...	ORPHA:2394
Spastic Paraplegia Type 7	Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochondrial morphology, Ur...	ORPHA:99013
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Myopathy, Distal, 1	Toe extensor amyotrophy, Distal muscle weakness, Tibialis anterior muscle atrophy, Left atrial en...	OMIM:160500
Isolated Atp Synthase Deficiency	Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hypo...	ORPHA:254913
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, EEG abnorma...	OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 25	Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies, Encephalopathy	OMIM:618246
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Ankle weakness, Quadriceps muscle weakness, Peroneal ...	ORPHA:609
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Poor head control, Elevated circulating asparta...	OMIM:613752
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Encephalopathy	ORPHA:306550
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Organic aciduria, Encephalopathy	OMIM:614741
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly, Ophthalmoplegia, Flexion contracture, Encephalopathy	ORPHA:77260
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Sensorineural hearing impairment, Optic atrophy, Muscle weakness, Encephalopathy	ORPHA:1171
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, De...	OMIM:613561
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal muscl...	OMIM:612937
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Gowe...	OMIM:602541
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ...	OMIM:232400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Encephalopathy	OMIM:615924
Myopathy, Myofibrillar, 2	Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici...	OMIM:608810
Combined Oxidative Phosphorylation Defect Type 27	Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m...	ORPHA:477774
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor...	OMIM:601382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy, Sensorineural hearing impairment	OMIM:208750
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Progressive external ophthalmoplegia, Elevated circu...	OMIM:617713
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Sensorineu...	OMIM:617950
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Poor ...	ORPHA:2609
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally nucleated skelet...	OMIM:608358
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat...	OMIM:251880
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia	OMIM:613657
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity...	ORPHA:397744
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly	OMIM:610539
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia, Encephalopathy	OMIM:218800
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa...	ORPHA:59135
Multiple Mitochondrial Dysfunctions Syndrome 3	Generalized muscle weakness, Optic atrophy, Decreased activity of mitochondrial complex II, Hyper...	OMIM:615330
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Encephalopathy	OMIM:617207
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Recurrent encephalopathy, Ele...	OMIM:255120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP synthase complex, Encephalop...	OMIM:615228
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hepatic...	ORPHA:71212
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Infantile encephalopathy, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakn...	ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Progres...	OMIM:607426
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:300696
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffne...	ORPHA:320360
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia	ORPHA:35
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati...	OMIM:608807
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:615595
Developmental And Epileptic Encephalopathy 97	Poor head control, Hypsarrhythmia, Epileptic encephalopathy	OMIM:619561
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist...	ORPHA:98911
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Encephalopathy, Hepatosplenomegaly	OMIM:610329
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Encephalopathy	OMIM:618224
Mitochondrial Complex I Deficiency, Nuclear Type 8	Decreased activity of mitochondrial complex I, Optic disc pallor, Pancreatitis, Encephalopathy	OMIM:618230
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, External ophthalmoplegia, Congestive heart fail...	ORPHA:225
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mit...	ORPHA:17
Frontotemporal Dementia With Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Abnormal mitochondrial morphology...	ORPHA:275872
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ...	OMIM:617519
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur...	ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiomyopathy, Pulmonar...	OMIM:619003
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Progressive external ophthalmoplegia, Decreased mitochondrial number, Elevated circulating creati...	ORPHA:352447
Cerebral Creatine Deficiency Syndrome 3	Gowers sign, Organic aciduria	OMIM:612718
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Poor head control, Decreased nerve conduction velocity, Sensorineural he...	OMIM:614932
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, El...	OMIM:201475
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy, Enc...	OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Dpm3-Cdg	Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph...	ORPHA:263494
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Encephalopathy	OMIM:616647
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Cardiomyopathy, Distal amyotrophy, Distal muscle weakness	OMIM:610100
Combined Oxidative Phosphorylation Deficiency 20	Progressive external ophthalmoplegia, EEG with burst suppression, Decreased activity of mitochond...	OMIM:615917
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Abnormal pinna morphology, D...	OMIM:615471
Hsd10 Disease, Infantile Type	Poor head control, Hypoglycemia, Nonprogressive encephalopathy, Cardiomegaly, Optic atrophy, Abno...	ORPHA:391428
Developmental And Epileptic Encephalopathy 70	Poor head control, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy,...	OMIM:618298
Developmental And Epileptic Encephalopathy 30	Encephalopathy, Hypsarrhythmia, Epileptic encephalopathy	OMIM:616341
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Ventricular hypertrophy, Increased urine succinate level, Hypoglyc...	OMIM:619048
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur...	OMIM:230350
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, Cardiomyopathy,...	OMIM:617336
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy...	OMIM:619167
Squalene Synthase Deficiency	Bicuspid aortic valve, Hypospadias, Posteriorly rotated ears, Increased circulating farnesol conc...	OMIM:618156
Patent Ductus Venosus	Hyperammonemia, Congenital portosystemic venous shunt, Hepatic encephalopathy, Hypergalactosemia,...	OMIM:601466
Mitochondrial Complex I Deficiency, Nuclear Type 29	Proximal muscle weakness, Lacticaciduria, Stage 5 chronic kidney disease, Abnormal heart morpholo...	OMIM:618250
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra...	OMIM:255160
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Abnormal autonomic nervou...	OMIM:618960
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph...	OMIM:500013
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Hepatic encephalopath...	ORPHA:890
Myopathy, Myofibrillar, 6	Scapular winging, Distal muscle weakness, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:612954
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Vertigo, Ophthalmoplegia, Left ventricular hyp...	OMIM:614458
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, H...	OMIM:619063
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Potocki-Lupski Syndrome	Abnormal renal morphology, EEG abnormality, Hypocholesterolemia, Atrial septal defect, Patent for...	OMIM:610883
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Centrally nucleated...	ORPHA:86812
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit...	ORPHA:319514
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria...	ORPHA:369
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weak...	OMIM:251900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio...	OMIM:261680
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance	ORPHA:1875
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Lacticaciduria, Hyperp...	ORPHA:79246
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, C...	OMIM:612999
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis...	ORPHA:157
Developmental And Epileptic Encephalopathy 45	Hypsarrhythmia, Epileptic encephalopathy	OMIM:617153
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
2,4-Dienoyl-Coa Reductase Deficiency	Poor head control, Ophthalmoplegia, Optic atrophy, Hyperlysinuria, Decreased plasma free carnitin...	OMIM:616034
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl...	OMIM:609452
Developmental And Epileptic Encephalopathy 60	EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617929
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m...	ORPHA:550
Childhood-Onset Nemaline Myopathy	Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ...	ORPHA:171439
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Developmental And Epileptic Encephalopathy 59	Hypsarrhythmia, Multifocal epileptiform discharges, Poor head control, Epileptic encephalopathy	OMIM:617904
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Proximal Myopathy With Extrapyramidal Signs	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes ...	ORPHA:401768
Developmental And Epileptic Encephalopathy 7	EEG with burst suppression, Epileptic encephalopathy	OMIM:613720
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M...	OMIM:619518
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex...	ORPHA:506
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo...	OMIM:212138
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ophthalmoplegia, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fi...	OMIM:252011
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormality of the liver, Abnormal concentration of acylcarnitine in...	ORPHA:391457
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,...	OMIM:610505
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased activity of mitochondrial co...	OMIM:619064
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Multifocal epileptiform discharges, EEG with focal epilepti...	ORPHA:599373
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ...	OMIM:619424
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Epileptic encephalopathy, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Hearing impa...	ORPHA:67048
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Encephalopathy	OMIM:605899
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn...	ORPHA:52430
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Multifocal epileptiform discharges, Cardiomyopat...	OMIM:608540
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont...	ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Flexion contracture, Rena...	OMIM:604273
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617830
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Decreased activity of mi...	OMIM:124000
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower limbs, Urin...	ORPHA:329478
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Fle...	OMIM:212065
Episodic Ataxia, Type 9	Paroxysmal vertigo, Vertigo, Encephalopathy	OMIM:618924
Developmental And Epileptic Encephalopathy 69	Hypsarrhythmia, Epileptic encephalopathy, EEG abnormality, Congenital contracture, Arthrogryposis...	OMIM:618285
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,...	OMIM:266510
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s...	ORPHA:98908
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Proximal musc...	ORPHA:254886
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox...	ORPHA:34515
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Congestive heart failure, Decreased activity of mitochondri...	ORPHA:70472
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di...	ORPHA:79159
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,...	OMIM:613642
Brown-Vialetto-Van Laere Syndrome 2	Bulbar palsy, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, Ne...	OMIM:614707
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Decreased activity of mitochondrial complex IV, Generalized...	OMIM:212350
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Congestive heart fa...	ORPHA:206546
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:300257
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati...	OMIM:612073
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Progressive muscle weakness, Sensorineural hearing impairment, Elevat...	ORPHA:772
Developmental And Epileptic Encephalopathy 62	Hypsarrhythmia, Epileptic encephalopathy	OMIM:617938
Hyperekplexia 4	Flexion contracture, Hypsarrhythmia, Distal arthrogryposis, Camptodactyly, Encephalopathy	OMIM:618011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox...	OMIM:615352
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Ragged-red muscle fibers, Decreased acti...	OMIM:252010
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Abnormal atr...	ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 26	Lacticaciduria, EEG abnormality, Distal amyotrophy, Limb hypertonia, Decreased activity of mitoch...	OMIM:618247
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:609308
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Progressive external ophthalmoplegia, Diabetes mellitus, Lim...	ORPHA:1215
Sarcosinemia	Peroneal muscle weakness, Optic atrophy, Hypersarcosinemia, Infantile sensorineural hearing impai...	ORPHA:3129
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypogl...	ORPHA:276580
Spinocerebellar Ataxia, Autosomal Recessive 31	External ophthalmoplegia, Optic atrophy, Bilateral sensorineural hearing impairment, Muscle weakn...	OMIM:619422
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Posteriorly rotated ears, Elevated circul...	OMIM:300280
Developmental And Epileptic Encephalopathy 53	Hypsarrhythmia, Elevated circulating creatine kinase concentration, Epileptic encephalopathy	OMIM:617389
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP...	OMIM:614053
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, De...	OMIM:615453
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Ophthalm...	ORPHA:79101
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Decre...	OMIM:619170
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Myopathy,...	ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 17	Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa...	OMIM:615440
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Decreased activity of...	ORPHA:324525
Mitochondrial Complex I Deficiency, Nuclear Type 22	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Poor head control	OMIM:618243
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Epileptic encephalopathy, Prolonged neonatal jaundice	OMIM:618512
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive ...	ORPHA:2022
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hearing impairmen...	OMIM:208085
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Optic atrophy, Ophthalmoparesis, Myopathy, Progressive encephalopathy, Hyp...	ORPHA:254881
Developmental And Epileptic Encephalopathy 15	Hypsarrhythmia, Epileptic encephalopathy	OMIM:615006
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Encephalopathy	OMIM:610090
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthal...	ORPHA:254857
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Hearing impairment, Pro...	OMIM:211530
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Cryptorchidism, Abnormality of mitochondrial metabolism, Hypsarrhythmia, Tetralogy of Fallot, Enc...	ORPHA:88639
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Increased variability in mus...	OMIM:125250
Lennox-Gastaut Syndrome	EEG abnormality, EEG with focal sharp slow waves, Encephalopathy	ORPHA:2382
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Increased urine succinate level,...	OMIM:615182
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:611182
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Multifocal epil...	OMIM:616672
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sensorineural hearing impairment, ...	OMIM:620167
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization	Acute encephalopathy	OMIM:618113
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Nonprogressive encephalopathy, Optic atrophy, Abnormal ur...	ORPHA:391417
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Decreased activity of mitochondrial complex IV, Dilated cardiomyopathy,...	OMIM:616198
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic...	OMIM:614739
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, G...	ORPHA:436271
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Decreased activity of mitochondrial respirator...	OMIM:605711
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Vertigo, Optic atrophy, Telangiectasia, Generalized amy...	ORPHA:79279
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Necrotizing encephalopathy	OMIM:260970
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Decreased ac...	OMIM:620135
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Elevated jugular venous pressure, Decreased ...	ORPHA:465508
Developmental And Epileptic Encephalopathy 73	Sensorineural hearing impairment, Flexion contracture, Epileptic encephalopathy	OMIM:618379
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam...	OMIM:246450
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, Poor head control, EEG with generalized epileptiform discharges, E...	OMIM:617976
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca...	ORPHA:93476
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Elevated c...	OMIM:258450
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, External ophthalmoplegia, Sensorineural hearing impairment, Vertigo...	OMIM:520000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Elevated circulating acylcarnitine concentration, External ophthalmoplegia, De...	OMIM:615838
Aminoacylase 1 Deficiency	Sensorineural hearing impairment, Acute encephalopathy, Bradycardia, Muscle weakness	OMIM:609924
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Decreased activi...	OMIM:614702
Aicardi-Goutieres Syndrome 2	Encephalopathy	OMIM:610181
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Abnormality of Krebs cyc...	ORPHA:255210
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro...	OMIM:309930
D-2-Hydroxyglutaric Aciduria 1	Infantile encephalopathy, Aortic regurgitation, Glutaric aciduria, Hypsarrhythmia, Cardiomyopathy...	OMIM:600721
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hearing impairment	ORPHA:858
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased nerve conduction velocity, Hyperammonemia, Hyperornithinemia, Acute encep...	OMIM:238970
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Diabetes mellitus, Distal muscle weaknes...	ORPHA:456312
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Decreased activity of the py...	OMIM:616277
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyp...	OMIM:606054
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk...	OMIM:614654
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Campto...	ORPHA:1194
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Chronic hepatic encephalop...	OMIM:271500
Intellectual Developmental Disorder, Autosomal Dominant 46	Epileptic encephalopathy	OMIM:617601
Intellectual Developmental Disorder, Autosomal Dominant 5	EEG abnormality, Torticollis, Congenital muscular torticollis, Epileptic encephalopathy	OMIM:612621
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly...	OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro...	OMIM:613404
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M...	ORPHA:71
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, De...	ORPHA:276575
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy, Poor head control	OMIM:619651
Fumarase Deficiency	Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, Increased urine succinate lev...	OMIM:606812
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur...	ORPHA:20
Severe Neonatal-Onset Encephalopathy With Microcephaly	EEG with focal slow activity, Multifocal epileptiform discharges, Encephalopathy	ORPHA:209370
Cach Syndrome	Flexion contracture, Optic atrophy, Renal hypoplasia, Nonketotic hyperglycinemia, Hepatosplenomeg...	ORPHA:135
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli...	ORPHA:1667
Developmental And Epileptic Encephalopathy 107	Epileptic encephalopathy	OMIM:620033
Developmental And Epileptic Encephalopathy 88	Hyperglutamatemia, Hypsarrhythmia, Epileptic encephalopathy	OMIM:618959
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy, Cardiomyopathy, Decre...	OMIM:618437
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent...	ORPHA:79095
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia, Hyperal...	ORPHA:927
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c...	ORPHA:368
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Sensorineur...	OMIM:249270
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ...	OMIM:614462
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of the mi...	ORPHA:91130
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog...	ORPHA:264580
Developmental And Epileptic Encephalopathy 12	Hypsarrhythmia, Epileptic encephalopathy	OMIM:613722
Combined Oxidative Phosphorylation Deficiency 35	Decreased activity of mitochondrial complex I, EEG abnormality, Decreased activity of mitochondri...	OMIM:617873
Glutaric Acidemia I	Infantile encephalopathy, Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circ...	OMIM:231670
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Joint contracture, Optic atrophy, Epileptic encephalopathy	OMIM:618324
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,...	ORPHA:445038
Folinic Acid-Responsive Seizures	Sensorineural hearing impairment, Encephalopathy, Optic atrophy, Multifocal epileptiform discharg...	ORPHA:79097
Ravine Syndrome	Progressive encephalopathy, Abnormal auditory evoked potentials	ORPHA:99852
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal...	OMIM:601596
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Hep...	OMIM:616483
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat...	ORPHA:79230
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure...	ORPHA:276556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Diabetes mellitus, Proximal muscle weakness, Progressive mu...	OMIM:609286
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Hearing impairment	OMIM:620270
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Encephalopathy	OMIM:616636
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	EEG abnormality, Macrotia, Encephalopathy	OMIM:617268
Multiple Mitochondrial Dysfunctions Syndrome 6	Poor head control, Optic atrophy, Hearing impairment, Epileptic encephalopathy	OMIM:617954
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal...	ORPHA:14
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Classic Glucose Transporter Type 1 Deficiency Syndrome	EEG abnormality, Encephalopathy	ORPHA:71277
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth...	OMIM:232500
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Splenomegaly, Sensorineural hearing impairment, Hyperprolinemia, Cardio...	OMIM:619046
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Elevated circulating ph...	OMIM:266500
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphr...	ORPHA:868
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Progressive Myoclonic Epilepsy With Dystonia	EEG with irregular generalized spike and wave complexes, Optic atrophy, Epileptic encephalopathy	ORPHA:352596
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Decreased...	ORPHA:431361
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Hypoglycemia, Optic atrophy, Hyperammonemia, Decreased activity of mitochondrial com...	OMIM:618253
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Infantile encephalopathy	ORPHA:263410
Desminopathy	Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc...	ORPHA:98909
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Jaundice, Hepatic fail...	ORPHA:79239
Mitochondrial Dna Depletion Syndrome 11	Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Facial ...	OMIM:615084
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Progressive distal muscle weakness, Congestive heart failure, Generalize...	ORPHA:746
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Encephalopathy	OMIM:619028
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Encephalopathy	ORPHA:357225
Developmental And Epileptic Encephalopathy 11	Epileptic encephalopathy	OMIM:613721
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Epileptic encephalopathy, Abnormal cardia...	OMIM:608776
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Lacticaciduria, Distal amy...	OMIM:618811
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog...	ORPHA:85447
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia...	ORPHA:156
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	EEG abnormality, Epileptic encephalopathy	OMIM:617820
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Cardiomegaly, Gowers sign, Flexion contractur...	ORPHA:365
Developmental And Epileptic Encephalopathy 23	Supravalvular aortic stenosis, Abnormal pinna morphology, Hypsarrhythmia, Epileptic encephalopathy	OMIM:615859
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, S...	OMIM:220110
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensor...	ORPHA:98907
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Glycogen Storage Disease Due To Lamp-2 Deficiency	Muscle flaccidity, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l...	OMIM:613155
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Gowers sign, Cardiomyopathy, Myopathy, Calf m...	ORPHA:119
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, EEG abnormality, Encephalopathy	OMIM:617668
Developmental And Epileptic Encephalopathy 55	Poor head control, Flexion contracture, Multifocal epileptiform discharges, Hypsarrhythmia, Epile...	OMIM:617599
Charcot-Marie-Tooth Disease, Type 4D	Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle...	OMIM:601455
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Early Myoclonic Encephalopathy	EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy	ORPHA:1935
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Electron tran...	OMIM:231680
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di...	ORPHA:79083
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy, 3-Methylglutaconi...	OMIM:619259
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy	OMIM:607685
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Flexion contracture, Posteriorly rotated ears, Low-set ears, Encephalopathy	OMIM:616281
Mitochondrial Complex I Deficiency, Nuclear Type 10	Decreased activity of mitochondrial complex I, External ophthalmoplegia, Optic atrophy, Encephalo...	OMIM:618233
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
D-Glyceric Aciduria	Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemi...	OMIM:220120
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Peho-Like Syndrome	Infantile encephalopathy, Optic atrophy, Hypsarrhythmia	OMIM:617507
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalize...	ORPHA:1177
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak...	ORPHA:98896
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Epileptic encephalopathy, Situs inversus totalis	OMIM:619881
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Decreased activity of mitochondrial ATP synthase complex, Hypospadias, Cryptorchidism, Hyperammon...	OMIM:614052
X-Linked Neurodegenerative Syndrome, Bertini Type	Epileptic encephalopathy	ORPHA:85334
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Epileptic encephalopathy	OMIM:615338
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv...	ORPHA:615
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Hypergl...	ORPHA:941
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, External op...	ORPHA:485421
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Scleromyxedema	Distal muscle weakness, Transient ischemic attack, Elevated circulating creatine kinase concentra...	ORPHA:167635
Amyloidosis, Finnish Type	Renal insufficiency, Bulbar palsy, Cardiomyopathy, Nephrotic syndrome, Cardiac amyloidosis	OMIM:105120
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Poor head control, Skeletal muscle atrophy, Abnormal atrioventricul...	ORPHA:3208
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:310200
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephro...	ORPHA:416
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Congenital sensorineural hearing impa...	ORPHA:79155
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 5	Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act...	OMIM:611719
Developmental And Epileptic Encephalopathy 57	Hypsarrhythmia, Epileptic encephalopathy	OMIM:617771
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Decreased pyruvate carb...	OMIM:229300
Schilder Disease	Vertigo, Muscle weakness, Encephalopathy	ORPHA:59298
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo...	ORPHA:358
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Poor head control, Decreased nerve conduction vel...	ORPHA:206436
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I...	ORPHA:136
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Nephro...	ORPHA:79327
Developmental And Epileptic Encephalopathy 92	EEG abnormality, Epileptic encephalopathy	OMIM:617829
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Hypospadias, Abnormal pinna morphology, Cryptorchidi...	ORPHA:79324
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventrat...	ORPHA:66634
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi...	ORPHA:79282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Hyperammonemia, Cardiomyopathy, P...	ORPHA:79312
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Proximal muscle weakness in upper limbs...	ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac...	OMIM:614922
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Poor head control, Elevated circulating creatine kinase concentrat...	ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 55	Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Skeletal muscle atrophy, El...	OMIM:619743
Developmental And Epileptic Encephalopathy 33	Hypsarrhythmia, Epileptic encephalopathy	OMIM:616409
Developmental And Epileptic Encephalopathy 71	EEG with burst suppression, Epileptic encephalopathy	OMIM:618328
Developmental And Epileptic Encephalopathy 40	Hypsarrhythmia, Epileptic encephalopathy	OMIM:617065
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Low-set ears, Camptodactyly, ...	OMIM:610015
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Myofiber disarray, Decreased activity of ...	OMIM:604377
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, El...	ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Decreased activity of mitochondrial co...	OMIM:618228
Developmental And Epileptic Encephalopathy 26	Hypsarrhythmia, Epileptic encephalopathy	OMIM:616056
Non-Specific Early-Onset Epileptic Encephalopathy	Poor head control, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Limb hyperto...	ORPHA:442835
Al Amyloidosis	Increased circulating NT-proBNP concentration, Abnormality of the liver, Hypoalbuminemia, Hepatom...	ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia, Encephalopathy	OMIM:610678
Developmental And Epileptic Encephalopathy 43	Hypsarrhythmia, Epileptic encephalopathy	OMIM:617113
Developmental And Epileptic Encephalopathy 27	Hypsarrhythmia, Epileptic encephalopathy	OMIM:616139
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrop...	ORPHA:171
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:609015
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Poor head control, Epileptic encephalopathy, Darwin tubercle of helix, Type 1 muscle fiber predom...	OMIM:612949
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Poor head control, Elevated circulating creatine kin...	ORPHA:329178
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Developmental And Epileptic Encephalopathy 54	EEG abnormality, Epileptic encephalopathy	OMIM:617391
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi...	ORPHA:2348
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, A...	OMIM:214110
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Encephalopathy	ORPHA:33276
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Epileptic encephalopathy	OMIM:618497
Tangier Disease	Hypertriglyceridemia, Distal muscle weakness, Hepatosplenomegaly, Facial diplegia, Hypocholestero...	ORPHA:31150
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Diabetes mellitus, Sensorineural hearing impairment, Ragged...	OMIM:530000
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Mucopolysaccha...	ORPHA:349
Developmental And Epileptic Encephalopathy 1	Poor head control, EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy, Micropenis	OMIM:308350
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Encephalopathy, Aminoaciduria, Pulmonary hemorrhage	OMIM:603585
Developmental And Epileptic Encephalopathy 31A	Hypsarrhythmia, Epileptic encephalopathy	OMIM:616346
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis, Restrictive ca...	OMIM:619433
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Congestive heart failure, Insulin resistan...	ORPHA:528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Mitochondrial Complex I Deficiency, Nuclear Type 19	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Optic atrophy, Hypogl...	OMIM:618241
Landau-Kleffner Syndrome	Interictal EEG abnormality, EEG with frontal focal spikes, EEG with generalized epileptiform disc...	ORPHA:98818
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Proteinuria, Pericardi...	ORPHA:77261
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria...	OMIM:619051
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Effo...	ORPHA:3282
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotra...	OMIM:227810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney...	OMIM:251000
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia...	ORPHA:101330
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Developmental And Epileptic Encephalopathy 91	Multifocal epileptiform discharges, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617711
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Sensorineural hearing impairment, Generalized muscle weakness, Encephalopathy	ORPHA:137754
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Elevated circulating hexacosanoic acid concentration, Optic atrophy, Epileptic...	OMIM:614388
Lead Poisoning	Decreased HDL cholesterol concentration, Distal muscle weakness, Abnormality of the autonomic ner...	ORPHA:330015
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Sensorineural hearing impairment, Cardiomyopathy, Hypertension, Hyperuricemi...	ORPHA:3222
Developmental And Epileptic Encephalopathy 17	EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	OMIM:615473
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Senso...	OMIM:618652
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy...	OMIM:251100
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib...	ORPHA:439232
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Decreased activity of mitochondrial complex IV, Decreased activity of mi...	OMIM:616539
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Abdominal wall muscle weakness, Cryptorchidism, Abnormal helix...	ORPHA:638
Sulfide:Quinone Oxidoreductase Deficiency	Acute encephalopathy, Elevated circulating creatine kinase concentration	OMIM:619221
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ophthalmoplegia, Dilated cardiomyopathy, Hypsarrhythmia, Bilateral sensorineural hea...	OMIM:618321
Peroxisome Biogenesis Disorder 9B	Distal muscle weakness, Sensorineural hearing impairment, Elevated circulating phytanic acid conc...	OMIM:614879
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Optic atrophy, Hyperammonemia, Cardiomyopathy, Pancreatitis	ORPHA:27
Developmental And Epileptic Encephalopathy 96	EEG with burst suppression, Epileptic encephalopathy	OMIM:619340
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hepatic encephalopathy, Hy...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hepatic encephalopathy, Hy...	ORPHA:529808
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
Neurodevelopmental Disorder With Involuntary Movements	Poor head control, Multifocal epileptiform discharges, Epileptic encephalopathy	OMIM:617493
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduc...	ORPHA:812
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ophthalmople...	ORPHA:699
Pontocerebellar Hypoplasia, Type 4	Infantile encephalopathy, Congenital contracture	OMIM:225753
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Viral hepatitis, Encephalopathy, Diaphragmatic paralysis, EEG with fo...	ORPHA:83597
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat...	OMIM:270400
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Poor head control, Splenomegaly, Vasculitis, Cardiom...	OMIM:225750
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypsarrhythmia, Optic nerve hypoplasia, Encephalopathy	OMIM:618890
Developmental And Epileptic Encephalopathy 67	EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy	OMIM:618141
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Glutamate-Cysteine Ligase Deficiency	Myopathy, Jaundice, Aminoaciduria, Hepatosplenomegaly	ORPHA:33574
Alpha-N-Acetylgalactosaminidase Deficiency	Vertigo, Oligosacchariduria, Hearing impairment, Cardiomegaly	ORPHA:3137
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly...	OMIM:251110
Mitochondrial Complex I Deficiency, Nuclear Type 9	Decreased activity of mitochondrial complex I, Encephalopathy	OMIM:618232
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Epileptic encephalopathy, Atrial septal ...	OMIM:618067
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Macrotia, Cardiomegaly	OMIM:300886
Developmental And Epileptic Encephalopathy 42	EEG abnormality, Flexion contracture, Epileptic encephalopathy	OMIM:617106
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	EEG abnormality, Epileptic encephalopathy	OMIM:617831
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Poor head control, Hypoglycemia, Sensorineural hearing impairment,...	OMIM:618329
Cyclic Vomiting Syndrome	Cardiomyopathy, Muscle weakness, Hearing impairment	OMIM:500007
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Cardiomyopathy, Elevated urine acet...	OMIM:620089
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Fati...	ORPHA:363623
Developmental And Epileptic Encephalopathy 94	EEG with generalized spikes, Multifocal epileptiform discharges, EEG with generalized polyspikes,...	OMIM:615369
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology	ORPHA:543
Noonan Syndrome 11	Posteriorly rotated ears, Bilateral sensorineural hearing impairment, Low-set ears, Pulmonic sten...	OMIM:618499
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Glycosuria, Focal segmental glomeruloscler...	OMIM:308990
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Decreased activity of mitochondrial complex IV, Re...	OMIM:616501
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Conges...	ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria, Encephalopathy	OMIM:602473
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Hydroxykynureninuria	Jaundice, Aminoaciduria	OMIM:236800
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop...	ORPHA:848
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri...	OMIM:608758
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Neurogenic bladder, Encephalopathy, Optic atrophy, Hypsarrhythmia, Hearing impairment	OMIM:617669
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Urinary incontinence, Elevated circulating creatine kinase concentration...	OMIM:617193
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia,...	OMIM:618857
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Hearing impairment, Splenomegaly, ...	OMIM:301072
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Acute en...	ORPHA:95428
Developmental And Epileptic Encephalopathy 21	Limb hypertonia, Interictal epileptiform activity, Epileptic encephalopathy	OMIM:615833
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	External ophthalmoplegia, Proximal tubulopathy, Aminoaciduria, Decreased activity of mitochondria...	OMIM:612075
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Cardiomegal...	OMIM:268800
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Hypok...	ORPHA:213
Raynaud-Claes Syndrome	Epileptic encephalopathy	OMIM:300114
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Absent brainstem auditory respo...	ORPHA:90321
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Abnormal auditory e...	OMIM:193700
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy...	ORPHA:31826
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Ketonuria, Hypoglycemia, Elev...	ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypoglycemia, Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid dr...	OMIM:220111
Developmental And Epileptic Encephalopathy 19	EEG with spike-wave complexes, EEG with photoparoxysmal response, Epileptic encephalopathy	OMIM:615744
Alg3-Cdg	Abnormal pinna morphology, Macroglossia, Cardiomyopathy, Decreased liver function, Arthrogryposis...	ORPHA:79321
Developmental And Epileptic Encephalopathy 37	Epileptic encephalopathy	OMIM:616981
Developmental And Epileptic Encephalopathy 14	Epileptic encephalopathy	OMIM:614959
Developmental And Epileptic Encephalopathy 72	Hypsarrhythmia, Epileptic encephalopathy	OMIM:618374
Developmental And Epileptic Encephalopathy 61	Optic atrophy, Epileptic encephalopathy	OMIM:617933
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Skeletal muscle atrophy, Transient ischemic attack, Cholangitis, S...	ORPHA:3260
Citrullinemia Type I	Torticollis, Hyperammonemia, Hepatic encephalopathy, Elevated plasma citrulline, Hepatic failure	ORPHA:247525
Developmental And Epileptic Encephalopathy 74	Epileptic encephalopathy	OMIM:618396
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac...	OMIM:616866
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal muscle weakness, Elevated circulating creatine kinase conc...	OMIM:164310
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hepatic encephalopathy, Abnormal left ventricular function, Am...	OMIM:619991
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Developmental Delay And Seizures With Or Without Movement Abnormalities	EEG abnormality, Epileptic encephalopathy	OMIM:617836
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Raynaud phen...	ORPHA:247691
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment...	ORPHA:79330
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, EEG abnormality, Aortic regurgitation, Epileptic encephalopathy	OMIM:615476
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Sensorineural hearing impairment	OMIM:612989
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Hypsarrhythmia, Nephrocalcinosis, EEG abnormality, Epileptic encephalopathy	OMIM:617105
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, E...	ORPHA:370959
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Sensorineural hearing impairment, Flexion contracture, EEG with focal...	ORPHA:544503
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, R...	ORPHA:79644
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Distal muscle weakness, Aganglionic megacolon, ...	OMIM:609136
Developmental And Epileptic Encephalopathy 46	Limb hypertonia, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617162
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Limb hypertonia, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617276
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au...	OMIM:105210
Timothy Syndrome	Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Ventricular tachyca...	OMIM:601005
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Decreased activity of mitochondrial com...	ORPHA:444013
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, EEG with burst ...	OMIM:261740
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Macroglossia, Fetal pyelectasis, Encephalopathy	OMIM:616900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Macrotia, Cardiomegaly	OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Multifocal epileptiform discharges, Hypsarrhythmia, Epileptic encephalopathy, ...	OMIM:617166
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Protruding ear, Large earlobe, Organic aciduria, Overfolded helix, Prominent antitragus, Muscle w...	OMIM:620191
Beta-Propeller Protein-Associated Neurodegeneration	Progressive encephalopathy, Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Developmental And Epileptic Encephalopathy 32	EEG with spike-wave complexes (2.5-3.5 Hz), Epileptic encephalopathy	OMIM:616366
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Encephalopathy	OMIM:604218
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Myopathy, Low-set ears, Nemaline bodies	OMIM:616549
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Ethylmalonic Encephalopathy	Ethylmalonic aciduria, Encephalopathy	ORPHA:51188
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Glycopeptiduria, Oligosacchariduri...	OMIM:230000
Developmental And Epileptic Encephalopathy 65	EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	OMIM:618008
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Developmental And Epileptic Encephalopathy 13	EEG with spike-wave complexes, Multifocal epileptiform discharges, Epileptic encephalopathy	OMIM:614558
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal urinary odor, Abnormal mitochondrial shape	ORPHA:412217
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Acute encephalopathy	OMIM:614849
Kohlschutter-Tonz Syndrome	Hypsarrhythmia, Epileptic encephalopathy	OMIM:226750
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Abnormal circulating creatine k...	ORPHA:521411
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Splenomeg...	OMIM:616651
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Abnormal pinna morphology, Ventricular septal defect, Low-set ears, Hypocholes...	OMIM:244450
Meconium Aspiration Syndrome	Maternal diabetes, Abnormal heart rate variability, Pulmonary arterial hypertension, Pulmonary in...	ORPHA:70588
Developmental And Epileptic Encephalopathy 101	Poor head control, Limb joint contracture, Epileptic encephalopathy, Third degree atrioventricula...	OMIM:619814
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	EEG abnormality, Encephalopathy	OMIM:300673
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in urin...	OMIM:253220
Friedreich Ataxia	Decreased motor nerve conduction velocity, Hand muscle atrophy, Diabetes mellitus, Optic atrophy,...	ORPHA:95
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Abno...	ORPHA:3463
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Flexion contractu...	OMIM:616897
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Optic atrophy, Cardiomyopathy, Generalized amyotrophy, Mus...	OMIM:617710
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Poor head control, EEG with burst suppression, Hypsarrhythmia,...	OMIM:619913
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion con...	OMIM:607014
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ca...	ORPHA:99776
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy...	ORPHA:2701
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Sensorineural hearing im...	ORPHA:773
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Epileptic encephalopathy	OMIM:618501
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Trisomy 10P	Absent gallbladder, Decreased muscle mass, Posteriorly rotated ears, Abnormality of the kidney, A...	ORPHA:171929
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Orga...	OMIM:253260
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Lower limb muscle weakness, Optic atrophy, Hyperhomocystinemia, Cystathioninem...	ORPHA:395
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Abnormal activity of mitochondrial respiratory chain, Encephalopathy	OMIM:617186
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Decreased nerve cond...	ORPHA:1933
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Congestive heart failure, Cardiom...	ORPHA:3386
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Hydroureter, Sensorineural hearing impairment, Optic atrop...	OMIM:222300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Atrioventricular block, Otitis media, Thickened helices, Condu...	ORPHA:581
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Cardiomegaly, Cryptorchidism...	OMIM:618143
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ...	OMIM:616026
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria, Optic atrophy, Limb hypertonia	ORPHA:99742
Prune1-Related Neurological Syndrome	Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormality, Low-set ears,...	ORPHA:544469
Dravet Syndrome	Epileptic encephalopathy	OMIM:607208
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Low-set ears, Cryptorchidism, Horseshoe kidney, Epileptic encephalopathy	ORPHA:502434
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Flexion contracture, Optic atr...	OMIM:617303
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Developmental And Epileptic Encephalopathy 44	Epileptic encephalopathy	OMIM:617132
Naxos Disease	Sudden cardiac death, Congestive heart failure, Vertigo, Cardiomyopathy, Paroxysmal ventricular t...	ORPHA:34217
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplas...	OMIM:130650
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Ophthalmoplegia	OMIM:618683
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome...	ORPHA:93473
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, EEG with irregular generalized spi...	ORPHA:1942
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Profound static encephalopathy	OMIM:600176
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Microve...	OMIM:300868
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Epileptic encephalopathy	OMIM:613443
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Macroor...	ORPHA:90790
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Hearing abnormality	ORPHA:1842
Letterer-Siwe Disease	Jaundice, Encephalopathy, Hepatosplenomegaly	OMIM:246400
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Hip contracture, Proteinuria, Abnormal pinna morphology, Abnor...	OMIM:216400
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase c...	OMIM:620326
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Ventricular septal defect, Hypo...	OMIM:214100
Developmental And Epileptic Encephalopathy 4	Infantile encephalopathy, EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	OMIM:612164
Developmental And Epileptic Encephalopathy 5	Hypsarrhythmia, Epileptic encephalopathy	OMIM:613477
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel...	ORPHA:892
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Poor head control, Muscle weakness, Epileptic encephalopathy	OMIM:617339
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, EEG with burst suppression, Encephalopathy, Hypsarrhythmia, Limb hyperton...	OMIM:615574
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, A...	ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Macrotia, Diabetes mellitus, Epileptic encephalopathy	OMIM:620194
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Pulmonic stenosis, Low-set ears,...	OMIM:615355
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Abnormality of the kidney, Myocardial infarction, Pulmonary embo...	ORPHA:464343
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials	OMIM:109120
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Flexion contracture, Optic atrophy, Elbow flexion contracture, Low-set ears, Art...	OMIM:617301
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b...	ORPHA:31824
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Ver...	ORPHA:466650
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopathy, Hypoal...	ORPHA:292
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Epileptic encephalopathy	OMIM:616211
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok...	OMIM:133540
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Progressive encephalopathy, Foot dorsi...	ORPHA:496756
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo...	OMIM:602450
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, EEG abnormality, Aminoaciduria, Elevated hepatic iron concentration...	OMIM:614946
Agel Amyloidosis	Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Abnormal spleen morpho...	ORPHA:85448
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, 3-Methylglutaconic aciduria, Hypertrophic ...	ORPHA:496790
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Diabetes mellitus, Arrhythmia, Hypertrophic cardiomyopathy, Muscle weakness	ORPHA:96
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni...	ORPHA:415
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy	OMIM:618012
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Micropenis, Ventricular septal defect, Epileptic encephalopathy	OMIM:620073
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Sensorineural hearing impairment	OMIM:616896
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Upper limb m...	ORPHA:206443
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Hearing impairment, Encephalopathy	OMIM:619580
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros...	OMIM:207800
Trichinellosis	Facial palsy, Vertigo, Ophthalmoplegia, Retinal hemorrhage, Tinnitus, Muscle weakness, Encephalop...	ORPHA:863
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	EEG abnormality, Abnormal mitochondrial shape, Optic atrophy	ORPHA:543470
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia, Urinary incontinence, Encephalopathy	ORPHA:83600
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly, Protruding ear, EEG abnormality	OMIM:618798
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Protruding ear, Otitis media, Hypocholesterolemia, Low-set ears	OMIM:223370
Beckwith-Wiedemann Syndrome	Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Congenital diaphragmatic hernia, Leiom...	ORPHA:116
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h...	ORPHA:361
Vici Syndrome	Sensorineural hearing impairment, Optic atrophy, Ureteral atresia, Renal tubular acidosis, Cardio...	ORPHA:1493
Peho Syndrome	Infantile encephalopathy, Optic atrophy, Hypsarrhythmia	OMIM:260565
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Encephalopathy	OMIM:606688
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Autosomal Recessive Dopa-Responsive Dystonia	Progressive encephalopathy	ORPHA:101150
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Low-set ears,...	OMIM:608022
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Nephrolithiasis, Epileptic encephalopathy	OMIM:620023
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	External ophthalmoplegia, Facial palsy, Encephalopathy	OMIM:607483
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperamm...	OMIM:210210
Roifman Syndrome	Recurrent otitis media, Noncompaction cardiomyopathy, Hip contracture, Hepatosplenomegaly	ORPHA:353298
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Low-set, posteriorly rotated ears, Scapular...	ORPHA:500
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Poor head control, Increased serum beta-hexosaminidase, Diast...	OMIM:252500
Developmental And Epileptic Encephalopathy 52	Epileptic encephalopathy	OMIM:617350
Lissencephaly Due To Lis1 Mutation	Poor head control, EEG with changes in voltage, Hypsarrhythmia, Epileptic encephalopathy, EEG wit...	ORPHA:95232
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Splenomegaly, Increased circulating ferriti...	OMIM:222700
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ...	ORPHA:134
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Limb hypertonia, Epileptic encephalopathy	OMIM:615905
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Congestive heart failure, Aplas...	ORPHA:354
Developmental And Epileptic Encephalopathy 24	Epileptic encephalopathy	OMIM:615871
Developmental And Epileptic Encephalopathy 3	EEG with burst suppression, Epileptic encephalopathy	OMIM:609304
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Flexion contracture, Optic atrophy, Low-set ears, Atrial septal defect, Hypertrophi...	OMIM:619383
Richards-Rundle Syndrome	Distal amyotrophy, Ketonuria, Hearing impairment	ORPHA:1399
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology	ORPHA:314478
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp...	OMIM:618886
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan excretion, Low-set ea...	ORPHA:79255
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Hepatomegaly, Abnormality of chromosome stability, Aganglionic...	ORPHA:175
Atelis Syndrome 2	Hyperinsulinemia, Supravalvar pulmonary stenosis, Protruding ear, Vitreous hemorrhage, Pulmonic s...	OMIM:620185
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar...	OMIM:619313
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Highly elevated creatin...	ORPHA:258
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem...	ORPHA:466677
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif...	ORPHA:464321
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Urinary incontinence, Upper limb muscle weakness,...	ORPHA:206448
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Microti...	OMIM:212112
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Neurofibrillary tangles, Splenomegaly, Prolonged ne...	OMIM:257220
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Encephalopathy	OMIM:618201
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Bulbar palsy, Poor head control, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:619055
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, EEG abnormality	ORPHA:3173
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension	OMIM:613320
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Posteriorly rotated ears, Low-set ears, Profound static enceph...	OMIM:616801
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Noonan Syndrome 6	Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Pulmonic stenosis, Hypertrophic c...	OMIM:613224
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia, Low-set ears, Arthrogrypo...	OMIM:608013
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Hypoglycemia, Jaundice, Hepati...	ORPHA:90062
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca...	OMIM:230500
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled...	ORPHA:217085
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Adult onset sensorineural hearing impairment, Condu...	ORPHA:90324
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Sensorineural hearing im...	ORPHA:579
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, W...	OMIM:201470
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Biotinidase Deficiency	Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Organic acidur...	ORPHA:79241
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, Limb hypertonia, Encephalopathy	OMIM:615803
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci...	OMIM:557000
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithia...	ORPHA:822
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Encephalopathy	OMIM:614212
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Dermatan sulfate excret...	OMIM:253200
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p...	ORPHA:183
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Sensorineural hearing impairment, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria	OMIM:616084
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypertension, Hypophospha...	OMIM:618913
Developmental And Epileptic Encephalopathy 84	Large earlobe, EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	OMIM:618792
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Rabson-Mendenhall Syndrome	Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Ventricular septal defect, In...	ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hyper...	OMIM:601992
Noonan Syndrome 5	Thickened helices, Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Low-set e...	OMIM:611553
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Membranoprolife...	ORPHA:48435
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Niemann-Pick Disease, Type C2	Hepatomegaly, Neurofibrillary tangles, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:607625
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Encephalopathy	OMIM:608033
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)...	ORPHA:401973
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephr...	ORPHA:369837
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Sensorineura...	ORPHA:18
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci...	ORPHA:35706
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Bundle branch block, Congenital diaphragmatic hernia, ...	ORPHA:373
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper...	OMIM:251120
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hepatic encephalopathy, Hypoalbuminemia, Inte...	ORPHA:99826
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cry...	OMIM:610733
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Wars2-Related Combined Oxidative Phosphorylation Defect	Poor head control, Neonatal hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Low-set ears, M...	ORPHA:572798
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Ataxia, Lymph node hypoplasia	OMIM:613179
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Facial hypotonia, Nephroblastoma, Cardiomegaly, Optic atrophy,...	ORPHA:97297
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, External ear malformation, Cryptorchidism, Hypertro...	ORPHA:251071
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Progressive encephalopathy, Transient ischemic attack, Urinary incontinence, Lacunar stroke	OMIM:600142
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial c...	ORPHA:158687
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Elev...	ORPHA:93672
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Low-set ear...	OMIM:617022
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Mucopolysaccharidosis Type 2	Hepatomegaly, Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valv...	ORPHA:580
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Nonprogressive encephalopathy	ORPHA:404451
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure...	ORPHA:30
Costello Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Mitral valve prolap...	ORPHA:3071
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ...	ORPHA:217093
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, EEG with generalized slow act...	ORPHA:86309
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Acute encephalopathy, Generalized muscle weakness	ORPHA:88619
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Kcnq2-Related Epileptic Encephalopathy	EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy	ORPHA:439218
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Epileptic encephalopathy	ORPHA:163985
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Acute encephalopathy, Abnormal autonomic nervous system physiology, Cerebral vascul...	ORPHA:83601
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Poor head control, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephr...	OMIM:617913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Acute encephalopathy, ...	OMIM:620358
Fanconi Anemia	Abnormality of the liver, Atrial septal defect, Hypospadias, Cryptorchidism, Azoospermia, Abnorma...	ORPHA:84
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal epileptiform discharges, N...	OMIM:615398
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Cardiomyopa...	OMIM:605275
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Developmental And Epileptic Encephalopathy 108	Epileptic encephalopathy	OMIM:620115
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Nephrocalcinosis, Conductive hearing impairment, Hypophosphatemic rickets, Pericard...	ORPHA:51608
Holocarboxylase Synthetase Deficiency	Organic aciduria, Hyperammonemia	ORPHA:79242
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Insulin resistance, Long penis, Hyperins...	ORPHA:508
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect, Sensorineural hearing imp...	OMIM:612938
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H...	OMIM:253270
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Autism, Susceptibility To, 3	EEG abnormality, Ketonuria	OMIM:608049
Martsolf Syndrome 1	Posteriorly rotated ears, Cardiac arrest, Congestive heart failure, Cryptorchidism, Cardiomyopath...	OMIM:212720
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Sarcoidosis	Hepatomegaly, Renal insufficiency, Abnormal cardiac ventricular function, Hypercalcemia, Portal h...	ORPHA:797
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Leopard Syndrome 2	Hypertrophic cardiomyopathy, Low-set ears	OMIM:611554
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin ...	OMIM:620306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Prominent antitragus, Elbow...	OMIM:245600
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy	OMIM:616881
Developmental And Epileptic Encephalopathy 38	Limb hypertonia, Hypsarrhythmia, Epileptic encephalopathy	OMIM:617020
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Micropenis, Hyperbilirubinemia, Unco...	OMIM:613673
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Poor head control, Pericardial effusion, Splenomegaly, Increased circulating ferrit...	OMIM:615846
Usher Syndrome	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia, Abnormal ca...	ORPHA:886
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ma...	ORPHA:2463
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Cardiome...	ORPHA:51
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal pinna morphology, Hypospadias, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum m...	OMIM:217980
Bardet-Biedl Syndrome 1	Ataxia, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Gait imbalance, Micropenis, Decr...	OMIM:209900
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Decreased circulating GABA concentration	OMIM:104300
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Protruding ear, Interictal epilept...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Protruding ear, Interictal epilept...	ORPHA:363958
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis, Epileptic encephalopathy	OMIM:614325
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Posteriorly rotated ears, Cryptorchidism, Mitral valve pr...	OMIM:619745
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Developmental And Epileptic Encephalopathy 49	EEG abnormality, Macrotia, Optic atrophy, Epileptic encephalopathy	OMIM:617281
Vici Syndrome	Elevated circulating creatine kinase concentration, Congestive heart failure, Sensorineural heari...	OMIM:242840
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Defective DNA repair afte...	ORPHA:33364
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Optic atrophy, Urinary retenti...	ORPHA:1328
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Cryptorchidism, Cardiomyopathy, Abnormal cardia...	ORPHA:3338
X-Linked Intellectual Disability, Armfield Type	Cryptorchidism, Aminoaciduria, Abnormal cardiac septum morphology, Galactosuria, Organic aciduria...	ORPHA:85276
Leopard Syndrome 1	Bundle branch block, Scapular winging, Hypospadias, Posteriorly rotated ears, Unilateral renal ag...	OMIM:151100
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Mitral regurgi...	OMIM:616564
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res...	ORPHA:3240
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Splenomegaly, Optic nerve dysplasia, Anterior creases of earlobe, Large...	OMIM:115150
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy	ORPHA:2148
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Zimmermann-Laband Syndrome 1	Hepatomegaly, Posteriorly rotated ears, Splenomegaly, Long penis, Nephrolithiasis, Cardiomyopathy...	OMIM:135500
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Vertigo, Lip telangi...	ORPHA:79280
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Jaundice, Hematuria, ...	ORPHA:160
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Gerstmann-Straussler Disease	Neurofibrillary tangles, Lower limb muscle weakness	OMIM:137440
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria, Hyperammonemia, Epileptic encephalopathy	OMIM:616457
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Thickened helices, Cryptorchi...	ORPHA:1340
Developmental And Epileptic Encephalopathy 2	EEG with generalized slow activity, Hypsarrhythmia, Epileptic encephalopathy	OMIM:300672
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Posterior heli...	OMIM:312870
Say-Barber-Miller Syndrome	Infantile encephalopathy, Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Elbow...	ORPHA:3132
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I	OMIM:618222
Developmental And Epileptic Encephalopathy 8	Epileptic encephalopathy	OMIM:300607
Congenital Disorder Of Glycosylation, Type Iim	Poor head control, Vesicovaginal fistula, Epileptic encephalopathy, Hypsarrhythmia, Hypertension,...	OMIM:300896
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Type II diabetes mellitus	ORPHA:99725
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Juncti...	OMIM:309801
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Abnormal autonomic nervous system physiology	OMIM:616840
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353281
Developmental And Epileptic Encephalopathy 29	Epileptic encephalopathy	OMIM:616339
Progressive Non-Fluent Aphasia	Neurofibrillary tangles, EEG with continuous slow activity	ORPHA:100070
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Proteinuria, Angina pec...	ORPHA:79318
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles	OMIM:608907
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Renal insufficiency, Epistaxis	OMIM:203300
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Cardiomegaly, Cryptorchidism, ...	ORPHA:3472
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, EEG abnormality, Abnormal auton...	ORPHA:2131
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Epididymitis, Prostatitis	OMIM:300755
Noonan Syndrome 3	Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Cryptorchidism, Mitral va...	OMIM:609942
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles	OMIM:619132
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Congenital diaphragmatic hernia,...	ORPHA:2556
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Kinsship Syndrome	Low-set ears, Renal hypoplasia, Horseshoe kidney, Epileptic encephalopathy	OMIM:619297
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bu...	OMIM:617403
Alzheimer Disease 3	Neurofibrillary tangles	OMIM:607822
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Aortic regurgitation, Ventricular septal defect, Posteriorly rotate...	OMIM:607721
Kanzaki Disease	Telangiectasia of the oral mucosa, Distal muscle weakness, Increased urinary O-linked sialopeptid...	OMIM:609242
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Conductive hearing impairment, Thickened helices, Atrial s...	OMIM:607872
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Hearing impairment	OMIM:117300
Neurodegeneration With Brain Iron Accumulation 2B	Neurofibrillary tangles, Optic atrophy	OMIM:610217
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353277
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypsarrhythmia, Encephalopathy	OMIM:618213
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles	OMIM:607485
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Hearing impairment	ORPHA:508542
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Hypoglycemia, Posteriorly rotated ears, Rhabdomyo...	OMIM:218040
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy, Macrotia	OMIM:616051
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Renal insufficiency, Epistaxis	ORPHA:79430
Opsoclonus-Myoclonus Syndrome	Vertigo, Encephalopathy	ORPHA:1183
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Interpha...	ORPHA:96334
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Abnormal circulating creatine kinase concentration, Hypomimic face	ORPHA:199351
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Turner Syndrome Due To Structural X Chromosome Anomalies	Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti...	ORPHA:99413
Mosaic Monosomy X	Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti...	ORPHA:99228
Monosomy X	Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti...	ORPHA:99226
Turner Syndrome	Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti...	ORPHA:881
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set, posteriorly rotated ears, Cyst of the ductus choledochus, Hydronephrosis, Cardiomyopathy...	ORPHA:480880
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Pulmoni...	OMIM:163950
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini...	ORPHA:91500
Acromegaly	Diabetes mellitus, Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Macroglos...	ORPHA:963
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Somatomammotropinoma	Diabetes mellitus, Dysuria, Hypertension, Mitral regurgitation, Macroglossia, Hypertrophic cardio...	ORPHA:314769
Alzheimer Disease 4	Neurofibrillary tangles	OMIM:606889
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles, Retrocollis	OMIM:609454
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles, Retrocollis	OMIM:601104
Yunis-Varon Syndrome	Small earlobe, Ventricular septal defect, Hypospadias, Cryptorchidism, Sensorineural hearing impa...	OMIM:216340
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Skeletal muscle - MPATH pathological process term vacuolation	Serac1^em1(IMPC)Tcp	HOM	Early adult
Skeletal muscle - MPATH pathological process term dysplasia	Serac1^em1(IMPC)Tcp	HOM	Early adult
Skeletal muscle - MPATH pathological process term dystrophy	Serac1^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Serac1^em1(IMPC)Tcp	HOM	Early adult
Skeletal muscle - MPATH pathological process term multifocal muscle regeneration	Serac1^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Serac1^em1(IMPC)Tcp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Serac1.

No publications found that use IMPC mice or data for Serac1.

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MGI Allele	Allele Type	Produced
Serac1^{tm42544(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Serac1^em1(IMPC)Tcp	Exon Deletion	Mice
Serac1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Serac1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Serac1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Serac1 MGI:2447813

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Pathology and Tissue Collection

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X-ray

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X-ray

Histopathology

Human diseases caused by Serac1 mutations

Histopathology

IMPC related publications

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