Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
optic atrophy 3
Synonyms:
LOC243868,  LOC384570,  D630048P19Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Opa3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Opa3 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Decreased activity o... OMIM:252011
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Ataxia, Lethargy, Decreased ac... OMIM:614299
Hsd10 Mitochondrial Disease
Visual loss, Hypoglycemia, Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Hypertroph... OMIM:300438
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Paraparesis, Tremor, Incoordination, Cerebellar atrophy, Dysmetria, Frequen... OMIM:302800
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Flexion contracture, Intrauterine growth retardation, Myopia, Hypoglycosy... ORPHA:272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Splenomegaly, Hepatomegaly, Lethargy, Failure to thrive, Cardiomyopath... ORPHA:79312
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Dystonia, Intrauterine growth retardation, Elevated circ... ORPHA:26792
Nemaline Myopathy 3
Dilated cardiomyopathy, Frequent falls, Nemaline bodies, Slender build, Mildly elevated creatine ... OMIM:161800
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Abnormality of retinal pigmentation, San... ORPHA:2515
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Visual impairment, Wolff-Parkinson-White syndrome, Obesi... OMIM:614947
Alg9-Cdg
Underdeveloped nasal alae, Ventricular septal defect, Narrow greater sciatic notch, Oligohydramni... ORPHA:79328
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Decreased body weight, Intrauterine growth retardation, Reduced subcutane... OMIM:618097
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Hepatomegaly, Ataxia, Lethargy, Paraparesis, Cardiomyopathy, Pancr... ORPHA:27
Charcot-Marie-Tooth Disease Type 2B1
Hammertoe, Hand muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Sho... ORPHA:98856
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Tremor, Hyperinsulinemia, Gait ataxia, Cerebral atrophy, Abnormal pyramidal sign, C... ORPHA:363400
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Visual loss, Abnormal sensory nerve conduction velocity, Ataxia, Axonal degeneration, Abnormality... ORPHA:88628
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Intrauterine growth retardation, Conges... OMIM:610198
Myopathy, Distal, 1
Dilated cardiomyopathy, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles... OMIM:160500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Growth delay, Elevated circulating creatine kinase concentr... OMIM:615895
Cystinosis
Retinopathy, Hypokalemia, Hypothyroidism, Portal hypertension, Abnormal pyramidal sign, Delayed p... ORPHA:213
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Decreased 3-hydroxyacyl-CoA dehydrogenase level... ORPHA:71212
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Fasciculations, Hepatomegaly, Elevated circulating creatine kinase concentrati... OMIM:610717
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, Postaxial foot polydactyly, Atrial septal defect, O... OMIM:615981
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber dia... OMIM:612937
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Leukoencephalopathy with metaphyseal chondrodysplasia
Visual loss, Metaphyseal chondrodysplasia, Spastic paraplegia, Depressed nasal bridge, Diffuse ce... OMIM:300660
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperlipidemia, Fasciculations, Degeneration of anterior horn cells, Mildly elevated... OMIM:604484
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, De... OMIM:619167
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Idiopathic Congenital Hypothyroidism
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Lethargy, ... ORPHA:95717
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Hypoglycemia, Elevated circulating palmitoleylcarnitine concentration... ORPHA:79282
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Bradyki... ORPHA:171442
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cerebral atrophy, Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopia, Myopathy,... ORPHA:369847
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Endocardial fibroelastosis, Congestive hea... OMIM:302060
Combined Oxidative Phosphorylation Deficiency 3
Decreased activity of mitochondrial complex I, Dilated cardiomyopathy, Rhabdomyolysis, Dystonia, ... OMIM:610505
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Ragged-red muscle fibers, Cogwheel rigidity, Limb muscle weakness, Atrial fibrill... ORPHA:254892
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Dilated cardiomyopathy, Action tremor, Dystonia... ORPHA:66634
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Hammertoe, Onion bulb formation, Step... OMIM:609260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Ske... OMIM:615157
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Blindness, Pigmentary retinopathy, Hypertension, Photophobia,... OMIM:203800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Decreased body weight, Polyhydramnios, Short stature, Myopathy, Type 1 fi... OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Foot dorsiflexor weakness, Hammertoe, Mildly elevated creatine kinase, Decreas... OMIM:618400
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Foot dorsiflexor weakness, Hammertoe, Fasciculations, Axonal dege... OMIM:614436
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Dilated cardiomyopat... OMIM:602390
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Hypercholesterolem... OMIM:208920
Spastic Paraplegia Type 7
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Lower limb muscle weakness, Ragged-red... ORPHA:99013
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Multiple lipomas, Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Inc... ORPHA:1349
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Lipoatrophy ORPHA:154
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Peripheral demye... OMIM:604168
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Wide nasal bridge, Hepatomegaly, Pigmentary retinopathy, Rod-cone dystrophy, Depressed ... OMIM:264470
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatic failure, Dystonia, Ragged-red muscle fibers, Pigme... ORPHA:255210
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:79159
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Abnormality of the thyroid gland, Macroglossia, ... ORPHA:442
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Gm1-Gangliosidosis, Type I
Cherry red spot of the macula, Dilated cardiomyopathy, Abnormal heart valve morphology, Intrauter... OMIM:230500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Atrial septal defect, Dehydration, Conjugated hyperbilirubinemia, ... OMIM:208085
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating creatinine concentration, Nonketotic hypoglycemia, Tapered fin... OMIM:608836
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Cholestasis, Elevated circulating acylcarnitine concentra... OMIM:609015
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Blurred vision,... OMIM:160120
Cerebrotendinous Xanthomatosis
Hypothyroidism, Dystonia, Global brain atrophy, Paraparesis, Hypermyelinated retinal nerve fibers... ORPHA:909
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopat... OMIM:609016
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Peripheral axonal neuropathy, Spasticity, B... OMIM:611105
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Tetraparesis, Dilated cardiomyopathy, Reduced systolic function, Skeletal muscle atrophy, Muscula... OMIM:616827
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent falls, Abnormality of the Achille... ORPHA:34515
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Frequent falls, Flexion contracture, Increased variability in muscle fibe... OMIM:300718
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Facial edema, Abnormality of epiphysis morphology, Reduced r... ORPHA:95716
Melas
Hypothyroidism, Ragged-red muscle fibers, Pigmentary retinopathy, Diabetes mellitus, Concentric h... ORPHA:550
Salih Myopathy
Dilated cardiomyopathy, Flexion contracture, Mitochondrial depletion, Arrhythmia, Elevated circul... OMIM:611705
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Muscular dystrophy, Elevated creatine kina... ORPHA:263494
Mitochondrial Complex I Deficiency, Nuclear Type 11
Retinopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thri... OMIM:618234
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Central hypothyroidism, Double outlet right ve... ORPHA:1667
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Int... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, F... OMIM:618378
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Hepatomegaly, Ataxia, Pigmentary retinopathy, Failure to thrive, Diabetes mellitus, De... OMIM:560000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Flexion contrac... ORPHA:367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Dystonia, Ragged-red muscle fibers, Increased variability in muscle fiber diameter,... ORPHA:17
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Decreased mitochondrial number, Limb-girdle muscle we... ORPHA:352470
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, High myopia, Skeletal muscle atrophy, Akinesia, Polyhydramnios, Ventricul... OMIM:607598
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Finger joint hypermobility, Myopia, Hypermetropia, Amblyopia, Inability to walk, Obesity, Fever, ... OMIM:618493
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Action tremor, Ragged-red muscle fibers, Cogwheel rigidity, Scapular winging, Cer... ORPHA:254886
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Central scotoma, Slow decrease in visual acuity, Optic atrophy, Arrhyt... ORPHA:104
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Re... ORPHA:206559
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Decreased activity of mitochondrial complex I, Cerebral atrophy, Elevated circulating alanine ami... OMIM:245400
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Elevated circulating c... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Cerebellar atrophy, Hypoglycemia, Bile duct proliferation, Hyper... OMIM:618329
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad nasal tip, Hypothyroidism, Long nose, Clinodactyly, Cerebellar vermis atrophy, Inguinal her... OMIM:616541
Propionic Acidemia
Cerebral atrophy, Hypoglycemia, Dystonia, Cerebellar hemorrhage, Dehydration, Hepatomegaly, Limb ... OMIM:606054
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Elevated transferrin satura... ORPHA:79230
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Filippi Syndrome
Cerebellar atrophy, Decreased body weight, Dystonia, Intrauterine growth retardation, Underdevelo... OMIM:272440
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function, Congestive h... ORPHA:2041
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Intrauterine growth retardation, Small for gestational age, Degen... OMIM:604320
Behr Syndrome
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Progressive visual loss, Ataxia, Prog... OMIM:210000
Leigh Syndrome With Cardiomyopathy
Retinopathy, Dilated cardiomyopathy, Hypertonia, Dystonia, Congestive heart failure, Global brain... ORPHA:70474
Congenital Disorder Of Glycosylation, Type Ie
Small hand, Cerebral visual impairment, Tremor, Retinopathy, Abnormal macular morphology, Muscula... OMIM:608799
Harel-Yoon Syndrome
Cerebellar atrophy, Myopia, Inability to walk, Hypertrophic cardiomyopathy, Ataxia, Peripheral ax... OMIM:617183
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance ORPHA:34587
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... ORPHA:275872
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Cerebral atrophy, Hepatic steatosis, Hepatic failure, Portal hypertension, Hypoglycemia, Periport... OMIM:251880
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Loss of gluteal ... ORPHA:280356
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Sensory axonal neuropathy, Congestive heart failure, Fatty replacement of skel... ORPHA:52430
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Hypoglycemia, Intrauterine growth retardation, Short palm, Cone-shaped epiphyses ... OMIM:618958
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hammertoe, Hypertrophic nerve changes, Axonal degeneration, Decre... OMIM:214400
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormality of extrapyramidal motor func... OMIM:165300
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy, Spastic paraplegia, Ataxia, Peripheral axonal neuropathy, Elevated hepati... OMIM:619688
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Failure to thrive, Tongue fa... OMIM:618811
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Retinopathy, Hypovolemia, Intrauterine growth retardation, Apraxia, Pancreatic hypopl... ORPHA:99885
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Small for gestational age, Hypertrophic cardiomy... OMIM:618775
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Intrauterine growth retardation, Atrial septal defect, Dysplastic t... OMIM:612863
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Myopathy With Extrapyramidal Signs
Dystonia, Clonus, Ventricular septal defect, Abnormality of extrapyramidal motor function, Tremor... OMIM:615673
Developmental And Epileptic Encephalopathy 75
Decreased liver function, Wide nasal bridge, Prolonged neonatal jaundice, Optic disc pallor, Card... OMIM:618437
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Calcaneovalgus deformity, Severe postnatal growth r... ORPHA:3078
Infantile Refsum Disease
Arrhythmia, Abnormality of epiphysis morphology, Facial palsy, Ataxia, Hepatomegaly, Rod-cone dys... ORPHA:772
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Hyperammonemia, Ventricular fibrillation, Patent foramen ovale, Small ... ORPHA:26793
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Generalized dystonia, Congestive heart failure, Inability to walk, Decreased l... ORPHA:70472
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Myopia, Atrial septal defect, Sandal gap, Pulmonary arterial hypertension, S... OMIM:300887
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Congenital blindness, Hepatic steatosis, Retinal detachment, Insul... ORPHA:436182
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Hypoglycemia, Dystonia, Abnormality of mitochondrial metabolism, Blindness,... ORPHA:391428
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Skeletal muscle atrophy, Inability to walk, Trem... ORPHA:330050
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Nonketotic hypoglycemia, Hyperammonemia, Recurrent hypoglycemia, Lipid accumulati... ORPHA:20
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dys... OMIM:604286
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased plasma carnitine OMIM:611283
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Dystonia, Methylmalonic acidemia, Failure to thrive, Elevate... ORPHA:289504
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Anteverted nares, Flexion contracture, Broad columella, Myopia, Atrial septal defect, Overlapping... OMIM:619383
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Myopia, Inability to walk, Tremor, Gait... OMIM:617988
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Hypokalemia, Hepatic failure, Hypothyroidism, Macr... ORPHA:699
Dpm1-Cdg
Sandal gap, Cerebral visual impairment, Retinopathy, Cerebellar atrophy, Muscular dystrophy, Long... ORPHA:79322
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular... ORPHA:216873
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Congestive... OMIM:212140
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Absent ossification of capital femoral epiphysis, Abnormality of epiph... ORPHA:226313
Gm1 Gangliosidosis
Cherry red spot of the macula, Broad nasal tip, Dystonia, Blindness, Macroglossia, Inguinal herni... ORPHA:354
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, High hypermetropia, Attenuation of... OMIM:145350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Methylmalonic acidemia, Hepatomegaly, Dehydration, Lethargy, Failure to th... OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Congenital muscular dystrophy, Hypermetropia, Myopia... OMIM:253800
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Congenital hip dislocation, Limb joint contracture, Failure to thrive, Ty... OMIM:255310
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Cerebral atrophy, Clinodactyly, Spastic tetraparesis, Patent foramen ovale, Small ... OMIM:614261
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Abnormality of the optic nerve, Myopia, Aplasia/Hypopl... ORPHA:33445
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nose, Patent foramen ovale, Inability to walk, Growth delay, Depressed nasal bridge, Failure... OMIM:613457
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal... ORPHA:168796
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Abnormal mitochondrial morphology, Elevated... OMIM:618528
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Retinal pigment epithel... OMIM:607459
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Alpha-Methylacyl-Coa Racemase Deficiency
Visual impairment, Ataxia, Pigmentary retinopathy, Spasticity, Hypergonadotropic hypogonadism, Tr... OMIM:614307
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Macro... ORPHA:90674
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Depressed nasal bri... OMIM:162100
Sialidosis Type 2
Abnormal macular morphology, Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splen... ORPHA:87876
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Optic nerve dysplasia, Hepatomegaly, Intrahepatic biliary dysgen... OMIM:214110
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Nonimmune hydrops fetalis, Hepatomegaly, ... OMIM:212065
Donnai-Barrow Syndrome
Myopia, Progressive visual loss, Retinal detachment, Congenital diaphragmatic hernia, Omphalocele... ORPHA:2143
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Inguinal hernia, Narrow nasal bridge, Failure to thrive, Cerebral visual imp... OMIM:618379
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, M... OMIM:610140
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Spastic tetraparesis, Dystonia, Hypertension, Ascites, Left ventricular hypertrop... OMIM:619487
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy, Sandal gap, Clinodactyly of the 5th finger OMIM:251220
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Type I diabetes mellitus, Hashim... OMIM:615688
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Orthostatic hypotension, Action tremor, Clonus, Temperature instabili... ORPHA:99027
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Blindness, Inability to walk, Gait disturbanc... ORPHA:216866
Laing Early-Onset Distal Myopathy
Minicore myopathy, Dilated cardiomyopathy, Foot dorsiflexor weakness, Weakness of orbicularis ocu... ORPHA:59135
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Skeletal muscle atrophy, Lo... OMIM:615980
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased activity of mitochondrial complex I, Dilated cardiomyopathy, Hepatic steatosis, Cerebra... ORPHA:99901
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Chronic hepatitis, Intrahepatic cholestasis, Hepatitis, Ventricular septal defect, ... OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Lethargy, Elevated circulating cre... OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Abnormal left ventricular function, Myopia, Congenital muscular dystrophy, I... OMIM:613155
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Resting tremor, Congestive heart failure, Facial myokymia, Limb... ORPHA:324588
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Foot dorsiflexor weakness, Axonal degeneration, Steppage gait, Gait disturbance OMIM:616155
Leigh Syndrome With Leukodystrophy
Progressive spastic paraplegia, Dystonia, Hypertrophic cardiomyopathy, Progressive cerebellar ata... ORPHA:255241
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Rigidity, Distal amyotrophy, Limb ataxia, Tremor OMIM:617018
Roifman Syndrome
Brachydactyly, Intrauterine growth retardation, Underdeveloped nasal alae, Short metacarpal, Clin... OMIM:616651
Combined Oxidative Phosphorylation Deficiency 29
Decreased activity of mitochondrial complex I, Retinopathy, Cerebellar atrophy, Dystonia, Global ... OMIM:616811
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Decreased plasma total carnitine, Hypoglycemia, Arrhyth... ORPHA:42
Mcleod Syndrome
Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Dystonia, Rh... OMIM:300842
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Diabetes mellitus, Calf muscle pseudohypertrophy, Pancreatitis, Congestive heart fa... ORPHA:79083
Adult Neuronal Ceroid Lipofuscinosis
Visual loss, Abnormal pyramidal sign, Progressive visual loss, Ataxia, Abnormal heart morphology,... ORPHA:79262
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cog7-Cdg
Cerebellar atrophy, Hepatosplenomegaly, Abnormality of finger, Small for gestational age, Hepatom... ORPHA:79333
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Azoospermia, Congestive heart failur... OMIM:615703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Rhabdomyolysis, Lethargy, Elevated circulating creatine kin... OMIM:618120
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Equinus calcaneus, Lower limb muscle weakness, Pigment... ORPHA:746
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Optic nerve hypoplasia, Decreased thyroid-stimulating hormone l... ORPHA:226307
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Failure to thrive, Dehydration, Hyperammonemia ORPHA:28
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Congestive heart failure, Hyper... ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent fall... OMIM:607155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Dysdiadochokinesis, Arrhythmia, Hypertonia, Skeleta... ORPHA:96
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Muscle hypertrophy of the lower extremities, Decreased adiponectin leve... ORPHA:280365
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Lower limb amyotrophy, Cerebellar atrophy, Spastic gait, Myopia, Optic nerve hypoplasia, Hypertro... ORPHA:496790
Neuraminidase Deficiency
Cherry red spot of the macula, Dysmetria, Skeletal muscle atrophy, Hydrops fetalis, Progressive v... OMIM:256550
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Fasting hypoglycemia, Ventricular tachycardia, Arrhythmia, Elevated circulating ... ORPHA:159
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Flexion contracture, Hypertonia, Bulbous nose, Scotoma, Intention ... OMIM:616505
17Q21.31 Microduplication Syndrome
Toe syndactyly, Delayed puberty, Sandal gap, Clinodactyly of the 5th finger, Failure to thrive, A... ORPHA:217340
Dominant Beta-Thalassemia
Hypothyroidism, Failure to thrive in infancy, Chronic hepatitis, Abnormality of iron homeostasis,... ORPHA:231226
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic dysarthria, Spastic diplegia, Ataxia, Nonketotic hyperglycinemia, Unsteady ga... ORPHA:401866
Baker-Gordon Syndrome
Dystonia, Choreoathetosis, Involuntary movements, Inability to walk, Ataxia, Prominent nasal tip,... OMIM:618218
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Hypothyroidism, Recurrent upper respiratory tract infections, Flexion contractur... ORPHA:391372
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Visual impairment, Tremor, Poor coordination, Spasticity, Clumsiness, Ba... OMIM:270500
Combined Oxidative Phosphorylation Defect Type 29
Decreased activity of mitochondrial complex I, Retinopathy, Myoclonic spasms, Global brain atroph... ORPHA:478029
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cerebral atrophy, Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, ... OMIM:614300
Roifman Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Intrauterine growth retardation... ORPHA:353298
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Transient neonatal diabetes mellitus, ... OMIM:601410
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Lipoatrophy, Hypertension,... ORPHA:79084
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Cerebellar atrophy, Arrhythmia, Decreased mitochondrial number, Ragged-re... ORPHA:352447
Abetalipoproteinemia
Hypothyroidism, Color vision defect, Blindness, Hypopigmentation of the fundus, Hyperbilirubinemi... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 12
Decreased activity of mitochondrial complex I, Spastic tetraparesis, Dystonia, Cholestasis, Ragge... OMIM:614924
Peho-Like Syndrome
Cerebellar atrophy, Short nose, Edema, Optic atrophy, Myoclonus OMIM:617507
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Camptodactyly of finger, Optic atro... ORPHA:1495
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage, Azoospermia, Sho... OMIM:300845
Isolated Succinate-Coq Reductase Deficiency
Spastic tetraparesis, Blindness, Loss of ability to walk, Severe short stature, Pigmentary retino... ORPHA:3208
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Cli... ORPHA:2370
Beta-Thalassemia Major
Hypothyroidism, Failure to thrive in infancy, Abnormality of iron homeostasis, Diabetes mellitus,... ORPHA:231214
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Atrial septal defect, Tapered finger, Short phalanx of finger, Long fingers, Hip di... OMIM:613458
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Cerebral atrophy, Dystonia, Pont... OMIM:619273
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Spinal Muscular Atrophy, Jokela Type
Hammertoe, Skeletal muscle atrophy, Fasciculations, Elevated circulating creatine kinase concentr... OMIM:615048
Riboflavin Transporter Deficiency
Color vision defect, Diabetes insipidus, Abnormal cranial nerve morphology, Skeletal muscle atrop... ORPHA:97229
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Hepatomegaly, Ataxia, Spastici... OMIM:615924
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Intrauterine growth retardation, Spastic tetraplegia, Abnormality of mitochondr... OMIM:615330
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Tremor, Leg muscle stiffness, Cerebellar atrophy, Flexion contract... ORPHA:137898
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Jaundice, Macroglossia, Short stature, Tetraplegia, Goiter, U... ORPHA:226292
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:101077
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Failure to thrive, Short stature, Eleva... ORPHA:300536
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hypokalemia, Failure to thrive in infancy, Blindne... OMIM:219800
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Hypertension, Recurrent bronchiolitis, Dehydration, Edema OMIM:616069
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Fever, Ataxia, Transient unilateral blurring of vision, Hemiplegia, Hemipares... OMIM:141500
Reticular Dysgenesis
Abnormality of mitochondrial metabolism, Fever, Failure to thrive, Aplasia/Hypoplasia of the thym... ORPHA:33355
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
3C Syndrome
Abnormal hip bone morphology, Abnormal mitral valve morphology, Inguinal hernia, Hypoplastic left... ORPHA:7
1P36 Deletion Syndrome
Hypothyroidism, High hypermetropia, Foot polydactyly, Motor stereotypy, Clinodactyly of the 5th f... ORPHA:1606
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Gr... OMIM:231530
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Lethargy, Failure to thrive, Dehydration, Aortic valv... OMIM:143880
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Spinocerebellar Ataxia 7
Dysmetria, Progressive visual loss, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasti... OMIM:164500
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Hydrops fetalis, Myocarditis, Hypotension, Fever, Pleural effusion,... ORPHA:292
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Mitral regurgitation, D... OMIM:258450
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Gilbert Syndrome
Dehydration, Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
9Q31.1Q31.3 Microdeletion Syndrome
Broad nasal tip, Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Tapered fing... ORPHA:401923
Hypothyroidism Due To Tsh Receptor Mutations
Abnormality of epiphysis morphology, Reduced radioactive iodine uptake, Increased circulating thy... ORPHA:90673
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Ataxia, Cerebral cortical atrophy, Spasticity, Bifid nasal tip, Optic atrophy,... OMIM:300983
Hsd10 Disease
Choreoathetosis, Progressive visual loss, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance... ORPHA:391417
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Proximal muscle weakness in upper limbs, Hepatic steatosis, Hyperlipidemia, Insuli... ORPHA:435660
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Hepa... ORPHA:369840
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Dilated cardiomyopathy, Down-sloping shoulders, Mitral regurgitation, Short clavic... OMIM:212112
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contra... ORPHA:521406
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia, Generalized amyotrophy, Proximal amyotrophy, Elevated circula... OMIM:615084
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... ORPHA:157941
Autosomal Agammaglobulinemia
Cellulitis, Fever, Failure to thrive, Hepatitis, Dehydration ORPHA:33110
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Ataxia, Growth delay, Omphalocele, Polyhydramnios, Cerebral corti... ORPHA:531
Vipoma
Hypokalemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating... ORPHA:97282
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Visual loss, Abnormality of epiphysis morphology, Myopia, Ret... ORPHA:90653
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Scapular winging, Slender build, Bradykinesia, Mildly eleva... ORPHA:171439
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, 2-3 toe syndactyly, Skeletal muscle atrophy, Tapered finger, Onion bulb form... OMIM:218000
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Enlarged kidney, Flexion contracture, Metaphyseal widening, Congestive heart failure, A... OMIM:617303
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevat... OMIM:606069
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Lipoatrophy, Insulin resistance ORPHA:79087
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Delayed puberty, Cerebral hemorrhage, Azoospermia, Flared nostrils, Hyper... ORPHA:280679
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatosplenomegaly, Global brain atrophy, Hepatomegaly, Depressed nasal bridg... OMIM:608776
Sialidosis Type 1
Cherry red spot of the macula, Retinopathy, Hernia, Skeletal muscle atrophy, Progressive visual l... ORPHA:812
Chronic Hiccup
Dehydration, Weight loss, Abnormality of the diaphragm ORPHA:396
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Decreased liver function, Ataxia, Tremor, Unsteady gait, Oculomoto... OMIM:614867
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Aortic regurgitation, Arrhythmia, Myopia, Atri... ORPHA:254346
Spontaneous Periodic Hypothermia
Arrhythmia, Tremor, Ataxia, Gait disturbance, Hypothermia ORPHA:29822
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Elbow flexion contracture, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Optic atrophy,... OMIM:615042
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Bulbous nose, Hypermetropia, Amblyopia, Myopia, Pulmonic stenosis, Choana... ORPHA:284169
Congenital Tufting Enteropathy
Choanal atresia, Failure to thrive, Photophobia, Cholestatic liver disease, Dehydration, Optic di... ORPHA:92050
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Resting tremor, Congestive heart failure, Facial myokymia, Limb... OMIM:606703
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Global brain atrophy, Severe short stature, Bilateral coxa val... OMIM:278800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Visual loss, Retinal degeneration, Arrhythmia, Atrial septal defect, Ataxia, Situs inversus total... OMIM:249270
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Hypothyroidism, Anteverted nares, Decreased body weight, Hypoglycemia, Small for ge... ORPHA:391408
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Lipodystrophy, Atrial flutter, Abnormal l... ORPHA:300751
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Wide nasal bridge, Precocious puberty, Hypergonadotropic hypogonadism, Ap... ORPHA:2229
Pyruvate Carboxylase Deficiency
Hypoglycemia, Dystonia, Recurrent hand flapping, Hyperammonemia, Tremor, Hypoglutaminemia, Tip-to... ORPHA:3008
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Fever, Lethargy, Failure to thrive, Dehydration, Weight loss ORPHA:178029
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Decreased liver function, Failure to thrive, ... OMIM:617093
Developmental And Epileptic Encephalopathy 78
Inability to walk, Cerebral palsy, Spasticity, Chorea, Cerebral visual impairment, Hypothermia OMIM:618557
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Clinodactyly, Patent foramen ovale, Bulbous nose, Hypermetropia, Myopia, Arthrogr... ORPHA:369891
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Congestive heart failure, S... ORPHA:90970
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Spastic tetraparesis, Abnormal pyramidal sign, Skeletal muscle steatosis, Hypertrophi... ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Action tremor, Dystonia, Athetosis, Pigmentary retinopathy, Nodular regener... ORPHA:404454
Choreoacanthocytosis
Phonic tics, Hyperkinetic movements, Involuntary movements, Peroneal muscle atrophy, Abnormal aut... ORPHA:2388
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Spas... OMIM:607317
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 45
Decreased activity of mitochondrial complex I, Cardiac arrest, Ataxia, Failure to thrive, Decreas... OMIM:618951
Beta-Ketothiolase Deficiency
Hypoglycemia, Extrapyramidal dyskinesia, Hypotension, Hepatomegaly, Ataxia, Hyperuricemia, Fever,... ORPHA:134
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Hyponatremia, Abnormal circulating aldosterone, Failure to thr... ORPHA:171876
Burn-Mckeown Syndrome
Abnormality of vision, Wide nasal bridge, Bilateral choanal atresia, Short stature, Prominent nas... ORPHA:1200
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Limb-girdle muscle weakness, Progressive visual loss, Spastic paraple... ORPHA:1215
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Myopia, Apraxia, Inability to walk, Tremor, Gait ataxia, Spasticit... OMIM:617810
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Growth delay, Short stature, Depress... ORPHA:438178
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepa... ORPHA:398124
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Convex nasal ridge, He... OMIM:615381
Codas Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology,... ORPHA:1458
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cerebellar atrophy, Congestive heart failure, Increased hepatic glycogen content, A... OMIM:619259
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Hypoglycemia, Accessory spleen, Failure to thrive in infancy, ... OMIM:619418
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Hypotension, Fever, Lethargy, Papilledema,... ORPHA:33475
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Lethargy, Dehy... OMIM:251100
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Abnormal heart valve morphology, Hernia, Abnormal nerve conduction veloc... ORPHA:93476
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cholestasis, Portal fibrosis, Fasting hypoglycemia, Skeletal muscle atrophy, Increased sarcoplasm... ORPHA:370
Lipodystrophy, Familial Partial, Type 2
Hypertension, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intramuscular ... OMIM:151660
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Mental Retardation, X-Linked 91
Clinodactyly, Short 5th finger, Obesity, Small hand, Short foot, Short nose OMIM:300577
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Abnormality of the anterior pituitary, Dystonia, Uterine prolapse, Increased circ... ORPHA:438213
Andersen-Tawil Syndrome
Torsade de pointes, Premature ventricular contraction, Periodic hyperkalemic paralysis, Bidirecti... ORPHA:37553
Cortical Blindness, Retardation, And Postaxial Polydactyly
Cerebral visual impairment, Short nose OMIM:218010
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Hypothyroidism, Broad toe, 2-3 toe syndactyly, Bulbous nose, Diastasis recti, Globa... ORPHA:488632
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Cerebral atrophy, Brachydactyly, Hypoplasia of the ulna, Pat... OMIM:602613
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Cerebral atrophy, Atrial septal defect, Methylmalonic acidemia, Growth delay... OMIM:614857
Glycogen Storage Disease Iii
Broad nasal tip, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase... OMIM:232400
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Central scotoma, Hypertonia, Blindness, Ataxia, Gait ataxia, Failure to thriv... ORPHA:543470
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Visual impairment, Visual field defect, Congestive heart... OMIM:229300
Friedreich Ataxia
Dystonia, Cervical spinal cord atrophy, Diabetes mellitus, Reduced visual acuity, Hand muscle atr... ORPHA:95
Oculodentodigital Dysplasia
Clinodactyly, Hypoglycemia, High hypermetropia, Underdeveloped nasal alae, Clinodactyly of the 5t... ORPHA:2710
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mel... OMIM:520000
Viss Syndrome
Hypothyroidism, Retinal detachment, Double outlet right ventricle, Macroglossia, Inguinal hernia,... OMIM:619472
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Myopia, Optic nerve hypoplasia, Proximal placement of thumb, Ventricular ... ORPHA:261250
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hepatic failure, Hypoglycemia, Hyperisoleucinemia, De... ORPHA:2394
Distal Trisomy 5Q
Brachydactyly, Chorioretinal coloboma, Absent thumb, Hypoplasia of the ulna, Hernia, Hypoplasia o... ORPHA:96097
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Flexion contracture, Intrauterine growth retardation, Small for gestational age... OMIM:616897
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Cockayne Syndrome Type 1
Pigmentary retinopathy, Male hypogonadism, Photophobia, Hypertension, Scarring, Tremor, Contractu... ORPHA:90321
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Cerebellar atrophy, Abnormality of thyroid ph... ORPHA:289494
Refsum Disease
Retinopathy, Abnormal pyramidal sign, Anosmia, Hammertoe, Abnormality of epiphysis morphology, Sh... ORPHA:773
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Wide nasal bridge, Hepatomegaly, Femoral hernia, ... ORPHA:2849
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Abnormality of vision, Involuntary movements, Limb hypert... ORPHA:442835
16P12.1P12.3 Triplication Syndrome
Brachydactyly, Abnormal tricuspid valve morphology, Bulbous nose, Hypermetropia, Myopia, Atrial s... ORPHA:485405
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal T-wave, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Arrhythmia, Fa... ORPHA:2131
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Cerebellar atrophy, Opisthotonus, Flexion contracture, Spastic tetraplegia, Fai... OMIM:615851
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Cardiomyopathy, Myoclonus, Tremor OMIM:619651
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Hernia, Inguinal hernia, Oligohydramnios, Short nose, Hip dislocation,... OMIM:193700
Pierpont Syndrome
Broad nasal tip, Decreased body weight, Short palm, Abnormal peripheral nervous system morphology... OMIM:602342
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Abnormal pyramidal sign, Spastic tetraplegia, Skeletal muscle atrophy, Slender nose, Decreased mo... OMIM:615419
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Clinodactyly, Hypercholesterolemia, Partial duplication of thumb phalanx,... OMIM:618348
Donnai-Barrow Syndrome
Broad nasal tip, High myopia, Short sternum, Progressive visual loss, Retinal detachment, Congeni... OMIM:222448
Alg3-Cdg
Lipodystrophy, Spastic tetraparesis, Dystonia, Abnormality of limb bone morphology, Abnormality o... ORPHA:79321
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Lipodystrophy, Broad nasal tip, High myopia, Intrauterine growth retardation, Congenital hip disl... ORPHA:357074
Seckel Syndrome 10
Glycosuria, Severe short stature, Elevated circulating luteinizing hormone level, Cone-shaped epi... OMIM:617253
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypopigmentation of the fundus, Abnormality of ... OMIM:242840
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Pigmentary retinopathy, Paraparesis, Macu... ORPHA:99
Paternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Hepatomegaly, Macroglossia, Precocious puberty, Postnatal growth... ORPHA:96191
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Visual impairment, Choreoathetosis, Ataxia, Short stature, Rigidity... OMIM:612438
Adrenomyeloneuropathy
Peripheral axonal degeneration, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primar... ORPHA:139399
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Lethar... ORPHA:226316
Oligomeganephronia
Elevated circulating creatinine concentration, Small for gestational age, Congenital diaphragmati... ORPHA:2260
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Depressed nasal bridge, Ventricular septal defect, Short nose ORPHA:261120
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556030
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Intrauterine growth retardation, Epiphyseal stippling, Optic nerve dysplasia,... OMIM:614866
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Blindness, Severe short stature, Retinal dysplasia, Mitral re... ORPHA:2556
Mohr-Tranebjaerg Syndrome
Dystonia, Myopia, Tremor, Spasticity, Photophobia, Cerebral visual impairment, Abnormal posturing... OMIM:304700
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Contractures of the large joints, Hepatomegaly, Elevated circulating creatine kinase concentratio... ORPHA:329178
Mohr-Tranebjaerg Syndrome
Color vision defect, Dystonia, Focal dystonia, Global brain atrophy, Photophobia, Cerebral visual... ORPHA:52368
Smith-Magenis Syndrome
Brachydactyly, Toe syndactyly, Hypothyroidism, Anteverted nares, Failure to thrive in infancy, Hy... ORPHA:819
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hype... OMIM:614480
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Cholestasis, Third degree atrioventricular block, Hypertension, Asc... OMIM:619573
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Abnormality of mitochondrial metabolism, Abnormal mitral valve morphology, Short stat... ORPHA:1192
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hepatic failure, Cerebral edema, Hypogl... OMIM:611126
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism, Cholestasis, Abnormal blood ion concentration, Ag... ORPHA:95427
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Narrow nasal ridge, Hypothyroidism, Intrauterine growth retardation,... ORPHA:363528
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia, Lethargy OMIM:615026
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Rhabdomyolysis, Arrhythmia,... ORPHA:228305
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Increased HDL cholestero... ORPHA:70591
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Dehydration, Hypertension, Hypomagnesemia, Tremor, Arrhythmia, ... ORPHA:94093
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Lower limb muscle weakness, Decreased adipose tissue around neck, Pigmen... OMIM:606721
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Broad nasal tip, Clinodactyly, Ventral hernia, Wide nasal bridge, Omphalocele, Sho... OMIM:618529
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Diabetes mellitus, Increased circulating cortisol level, Hyperlipidemia, Dorsocervi... ORPHA:189439
Rhiny
Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Foot dorsiflexor weakness, Hammertoe, Ataxia, Steppage gait, Gait ... OMIM:618387
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Dystonia, Hepatomegaly, Ataxia, Decreased number ... OMIM:256810
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased... OMIM:610600
Wiedemann-Rautenstrauch Syndrome
Action tremor, Increased subcutaneous truncal adipose tissue, Slender build, Congenital malformat... ORPHA:3455
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Visual loss, Cerebellar atrophy, Abnormal pyramidal sign, Spastic tetraplegia, ... OMIM:256600
Alexander Disease
Hypothyroidism, Abnormal pyramidal sign, Hypotension, Ataxia, Abnormal autonomic nervous system p... ORPHA:58
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Frequent falls, Dystonia, Cardiomyopathy, Myoclonus, Tremor OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Cerebral atrophy, Dystonia, Choreoathetosis, Clinodactyly of the 5th finger, Ataxia,... OMIM:619422
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Abnormality of peripheral somatosensory evoked potential... ORPHA:466768
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Nonketotic hypoglycemia, Decre... OMIM:201475
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Refsum Disease, Classic
Anosmia, Retinal degeneration, Arrhythmia, Congestive heart failure, Ataxia, Limb muscle weakness... OMIM:266500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Finger joint hypermobility, Flexion contracture, Metacarpophalangeal joint co... ORPHA:544503
Tonne-Kalscheuer Syndrome
Brachydactyly, Wide nasal bridge, Growth delay, Congenital diaphragmatic hernia, Abnormal heart m... OMIM:300978
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Broad nasal tip, Dystonia, Bulbous nose, Prominent protruding coccyx, Spastic diplegia, Obesity, ... ORPHA:480907
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short stature, Anteverted nares, Short nose ORPHA:2015
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Dysmetria, Inability to walk, Hyperthyroidism, Ataxia, Increased circulating pr... OMIM:617675
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Visual loss, Dysmetria, Dystonia, Cerebellar atrophy, Myoclonic spasms, Progres... ORPHA:79263
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Opisthotonus, Decreased body weight, Intrauterine growth ret... OMIM:608013
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysmetria, Increased intramyocellular lipid droplets, Hyperthyroidism, Mildly elevated creatine k... ORPHA:502423
Arterial Tortuosity Syndrome
Cardiac arrest, Clinodactyly of the 5th finger, Inguinal hernia, Telangiectasia of the skin, Hype... ORPHA:3342
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Short toe, Short nose, Brachydactyly, Intrauterine growth retardation, Bil... ORPHA:439822
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Patent foramen ovale, Flexion contracture, Hernia, Atrial se... ORPHA:505248
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Short 1... OMIM:251450
Distal Monosomy 10Q
Clinodactyly, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Clonus, Facial diplegia... ORPHA:96148
Chromosome 18Q Deletion Syndrome
Failure to thrive in infancy, Inguinal hernia, Ventricular septal defect, Dysplastic pulmonary va... OMIM:601808
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Hyperglycinemia, Babinski sign, Decreased activity ... OMIM:619063
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Central hypothyroidism, Clinodactyly of the 5th finger, Tapered finger, Inguinal hernia, Ventricu... OMIM:300998
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Visual loss, Hypoglycemia, Myopia, Abnormality of retinal pigmentation, Hypertrophic... ORPHA:5
Cockayne Syndrome A
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypoplastic iliac wing, Hypertension... OMIM:216400
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency, Decreased liver function, Ataxia, Hepatomegaly, Decreased nerve conduction... OMIM:614863
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Visual loss, Decreased serum zinc, Flexion contracture, Atypical scarring... ORPHA:89842
Leigh Syndrome
Hepatic failure, Decreased activity of mitochondrial complex II, Dystonia, Hypoglycemia, Athetosi... ORPHA:506
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Recurrent upper respiratory tract infections, Obesity, Tapered finger, Congenital h... OMIM:300209
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Wide nasal bridge, Duplication of phalanx of hallux, Failure to thrive, S... OMIM:243310
Joubert Syndrome With Hepatic Defect
Inguinal hernia, Tremor, Intrahepatic biliary atresia, Postaxial hand polydactyly, Prominent nasa... ORPHA:1454
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Cerebellar atrophy, Anteverted nares, Wide nasal bridge, Depressed nasal bridge... OMIM:616430
Progeria-Short Stature-Pigmented Nevi Syndrome
Brachydactyly, Hepatic steatosis, Multiple joint contractures, Delayed puberty, Small for gestati... ORPHA:2959
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Atrial fibrillation, Ma... ORPHA:273
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Dislocated radial head, Short metacarpa... OMIM:211750
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Weight loss, Abnormality of the ... ORPHA:298
Hurler Syndrome
Broad nasal tip, Hypoplasia of the femoral head, Endocardial fibroelastosis, Hernia, Macroglossia... OMIM:607014
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Limb fasciculations, Lower limb muscle weakness, Abnorm... ORPHA:90117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Broad nasal tip, Hypothyroidism, Underdeveloped nasal alae, Failure to thrive... ORPHA:268261
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Lethargy, Dehy... OMIM:251110
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cerebellar atrophy, Cerebral atrophy, Hypoglycemia, Rhabdomyoly... OMIM:124000
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Clinodactyly, Hypercholesterolemia, Partial duplication of thumb phalanx,... OMIM:616730
Aceruloplasminemia
Dystonia, Macular degeneration, Diabetes mellitus, Decreased circulating copper concentration, Tr... ORPHA:48818
Alström Syndrome
Abnormal coronary artery physiology, Retinal pigment epithelial atrophy, Hepatic failure, Blindne... ORPHA:64
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cardiofaciocutaneous Syndrome 1
Clinodactyly of the 5th finger, Cerebral visual impairment, Short nose, Myopia, Progressive visua... OMIM:115150
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Acromicric Dysplasia
Brachydactyly, Short palm, Bulbous nose, Abnormality of epiphysis morphology, Severe short statur... ORPHA:969
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Intrauterine growth retardation,... OMIM:617156
Chromosome 19Q13.11 Deletion Syndrome, Distal
Intrauterine growth retardation, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Wide ... OMIM:613026
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Arrhythmia, Hepatomegaly, Lethargy, Elevated circula... OMIM:255120
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Musc... OMIM:613327
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Intrauterine growth retardation, Epiphyseal stippling, Choanal atresia, Macrogloss... ORPHA:1914
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Growth delay, Decreas... OMIM:203400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Hyperbilirubinemia, Ventricular septal defect, Abnormal abdomen morphology, Clonus, Gen... OMIM:619475
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Khan-Khan-Katsanis Syndrome
Clinodactyly, Hypertonia, Flexion contracture, Patent foramen ovale, Corneal scarring, Intrauteri... OMIM:618460
Hurler Syndrome
Endocardial fibroelastosis, Hernia, Macroglossia, Hypertension, Retinopathy, Abnormality of epiph... ORPHA:93473
Myopathy, Spheroid Body