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Gene: Opa3 MGI:2686271

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Opa3 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr... OMIM:165300
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity, Abnormality of extrapyramida... OMIM:258501
3-Methylglutaconic Aciduria Type 3
Ataxia, Choreoathetosis, Gait disturbance, Spastic paraparesis, Visual impairment ORPHA:67047
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural... ORPHA:67036

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Short stature, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Babi... OMIM:252011
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia, Visual loss, Optic atrophy, Spast... OMIM:300438
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Optic atrophy, Dehydration, Hyperammonemia, Choreoathetosis, Cardiomy... ORPHA:79312
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Congenital Muscular Dystrophy, Fukuyama Type
Myopia, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy,... ORPHA:272
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Ataxia, Elevated ... OMIM:610198
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopat... OMIM:614299
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Chorea, Right ventricular dilatation,... ORPHA:369840
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... ORPHA:26792
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Hepatomegaly, Blindness, Hyperalaninemia, Ataxia, Short stature, Dilated card... ORPHA:254913
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Facial palsy, Polyhydramnios, Rigidity, Nemaline bodies, Dilated cardiomyopathy, L... OMIM:161800
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Sandal gap, Ventricular septal defect, Short stature, Dilate... ORPHA:2515
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Ataxia, Paraparesis, Optic atrophy, Dehydration, Hyperammonemia, Choreoathetosis, C... ORPHA:27
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Tremor, Abnormal pyramidal sign, Gait ataxia, Limb dystonia, Hepatic steatosis, ... ORPHA:363400
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Alg9-Cdg
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... ORPHA:79328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Decreased circulating plasmalogen concentration, Anteverted nares... OMIM:222765
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyceridem... OMIM:610717
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Bradykinesia, Poor f... ORPHA:171442
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Inability to walk, Congestive heart failure, ... ORPHA:206546
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio... ORPHA:88628
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Obe... OMIM:615981
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventricular block,... ORPHA:261
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Lower limb spasticity, Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythm... ORPHA:320360
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventricular block,... ORPHA:98853
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Hypothermia, Facial edema, Delayed proximal femoral epiphyseal ossificati... ORPHA:95717
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Di... OMIM:619903
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... ORPHA:71212
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Babinski sign, Optic atrophy, Spastic gait, Abnormal pyram... ORPHA:99013
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Ataxia, Left ventricular systolic dysfu... OMIM:619167
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... OMIM:208920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... OMIM:612937
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Depressed n... OMIM:264470
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Pedal edema, He... ORPHA:422
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ataxia, Increased adipose tissue, Congestive heart failure, Dilated car... ORPHA:1349
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Decreased activity of mitochondrial ATP s... OMIM:618378
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopia, Chorea, Cerebral atrophy, Right ventricular dilatation, Myopathy, Hyperkinetic movements,... ORPHA:369847
Cystinosis
Fever, Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Abnorm... ORPHA:213
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperhomocystinemia, Letharg... ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV,... OMIM:616198
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Peripheral axonal neuropathy, Decreased distal sensory nerve actio... OMIM:618400
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Edema, Cerebral visual impairment, Tremor, Qu... ORPHA:254892
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased testicular s... OMIM:604168
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Myopathy, Type 1 fibers rela... OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn... OMIM:614436
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Clonus, Hypothermia, Cerebral visual impairment, Rigidity, Babinski sign, Optic ... OMIM:614498
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Lower limb spasticity, Dystonia, Ataxia, Di... ORPHA:66634
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Myopia, Ventricular septal defect, Mesoaxial hand polydactyly, Partial a... OMIM:615996
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, D... ORPHA:79159
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Cerebral visual impairment, Congestive heart failur... OMIM:618234
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Lipoatrophy, Elevated circulating creatine kinase concentration ORPHA:154
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... ORPHA:909
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Axonal degenera... OMIM:620011
Mitochondrial Dna-Associated Leigh Syndrome
Chorea, Ragged-red muscle fibers, Low plasma citrulline, Gait ataxia, Hypertonia, Hepatomegaly, A... ORPHA:255210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin... OMIM:611105
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA d... OMIM:609016
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Rocke... OMIM:214150
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... OMIM:300718
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... OMIM:208085
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Cerebral degeneration, Abnormal heart valve morphology, Severe sho... OMIM:230500
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mit... ORPHA:17
Wolcott-Rallison Syndrome
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Dehydration, Abnormality of ... ORPHA:1667
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... OMIM:616827
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Cerebellar hemorrhage, Dehydration, Cerebral atrophy, ... OMIM:606054
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase conc... OMIM:618120
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Elevated circulating aspart... OMIM:619048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Nonimmun... ORPHA:367
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypothyroidism, Abnormal mitochondria i... ORPHA:550
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... ORPHA:206559
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Rhizomelia, Polyhydramnios, Tremor, Congestive heart failure, Bulbous... OMIM:616271
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulati... OMIM:604286
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Waddling gait, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dys... ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Chorioretinal hyper... OMIM:618329
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Dysmetria, Hypothyroidism, Ataxia, Short stature, Cryptorchidism, Insulin resistance, ... OMIM:616541
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hyperalaninemia, Hypothermia, Cerebral atrophy, Hypertonia, Bradycardia, Dyst... OMIM:614654
Dpm3-Cdg
Elevated hepatic transaminase, Babinski sign, Dilated cardiomyopathy, Calf muscle hypertrophy, Mu... ORPHA:263494
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Blindness, Ataxia, Dehydration, Pigmentary retinopathy, Myoclonus, Type I diabetes ... OMIM:560000
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... ORPHA:276435
Autosomal Recessive Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Hand muscle weakness, Ragged-red muscle fiber... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... OMIM:610505
Periventricular Nodular Heterotopia 7
Optic disc pallor, Myopia, Contracture of the proximal interphalangeal joint of the 2nd finger, V... OMIM:617201
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... OMIM:613642
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Myopia, Abnormality of temperature regulation, Depressed nasal bridge, Sh... OMIM:618493
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... OMIM:619424
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Akinesia, Dilated card... OMIM:607598
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fever, Abnormal atrioventricular conduct... ORPHA:732
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Harel-Yoon Syndrome
Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atroph... OMIM:617183
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Dilated ... OMIM:618805
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Short stature, Muscle fiber hyaline bodie... OMIM:255160
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Diaphragmatic eventration, Small for gestational age, Camptodacty... OMIM:604320
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... ORPHA:79230
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy, Retinopathy OMIM:615119
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Hypoglycemia, Cryptorchidism, Dehydr... OMIM:618958
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Myopia, Sandal gap, Short stature, Congenital diaphra... OMIM:300887
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr... OMIM:165300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hepatic steatosis, Amyotrophic lateral sclerosis, Short stature, Elevated circulat... ORPHA:52430
Alpha-Methylacyl-Coa Racemase Deficiency
Constriction of peripheral visual field, Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated... OMIM:614307
Infantile Refsum Disease
Hepatomegaly, Constriction of peripheral visual field, Ataxia, Facial palsy, Short stature, Very ... ORPHA:772
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Elevated hepatic transaminase, Peripheral axonal neuropathy, Ataxia, Dilated cardiomyopathy, Spas... OMIM:619688
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Congestive heart failure, Chorea, Decreased acti... ORPHA:70472
Dpm1-Cdg
Elevated circulating creatine kinase concentration, Cerebral visual impairment, Knee flexion cont... ORPHA:79322
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... OMIM:618811
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Hepatomegaly, Myopia, Overlapping toe, Anteverted nares, Inability to walk, ... OMIM:619383
Myopathy With Extrapyramidal Signs
Clonus, Elevated circulating creatine kinase concentration, Tremor, Chorea, Choreoathetosis, Extr... OMIM:615673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating creatine kinase concentration, Cerebral visual impairment, Tremor, Knee flex... OMIM:608799
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... OMIM:606703
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Small for gestational age, ... OMIM:618775
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Congenital hip dislocation, Ventricular septal defect, Small for gestational age, Rock... ORPHA:3078
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Cerebral visual impairment, Babinski sign, Optic atrophy, Wi... OMIM:618437
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Dehydration, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia, Spastic hemiparesis, ... ORPHA:20
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Prominent fingertip pads, Tricuspid regurgitation, Sandal gap, Ante... OMIM:612863
Familial Dyskinesia And Facial Myokymia
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... ORPHA:324588
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb ... ORPHA:436182
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:611615
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Short stature, Ragged-re... ORPHA:457050
Congenital Disorder Of Glycosylation, Type Ia
Edema, Tremor, Flexion contracture, Dysmetria, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterol... OMIM:212065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Myopia, Exaggerated startle response, Skeletal muscle atrophy, Elevated circu... OMIM:253800
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Short statur... OMIM:612526
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Ataxia, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, ... ORPHA:99885
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Dehyd... ORPHA:289504
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypert... OMIM:618815
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Hypothermia, Large for gestational age, Delayed epiphyseal ossification, ... ORPHA:226313
Behr Syndrome
Cerebellar atrophy, Blindness, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic ... OMIM:210000
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleated skeletal mu... OMIM:255310
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Decreased fumarate hydratase activity, An... OMIM:606812
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep... OMIM:145350
Gm1 Gangliosidosis
Tremor, Depressed nasal ridge, Hydrops fetalis, Decerebrate rigidity, Ganglioside accumulation, C... ORPHA:354
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Right ventricular dila... OMIM:619705
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Upper limb muscle weakness, Steppage gait, Gait disturbance, Lower limb musc... OMIM:616155
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Delayed proximal femoral epiphyseal ossification, Lethargy, Depressed nasal bridge,... ORPHA:90674
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... ORPHA:699
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness, Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal ... ORPHA:216873
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Generalized dystonia, Inability to walk, Spasticity, Weight loss, O... ORPHA:216866
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Third degree atr... OMIM:601419
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Decreased activity of mitochondrial complex III, Hepatocellular necrosis, Hypoalbuminemia, Decrea... OMIM:251880
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Telangiectasia of the skin... OMIM:212112
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... ORPHA:528
Donnai-Barrow Syndrome
Omphalocele, Retinal detachment, Myopia, Ventricular septal defect, Retinal dystrophy, Congenital... ORPHA:2143
Combined Oxidative Phosphorylation Deficiency 52
Hyperalaninemia, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619386
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism,... ORPHA:496790
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Upper li... ORPHA:309169
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Aicardi-Goutieres Syndrome 9
Edema, Hypertonia, Hepatic fibrosis, Hypoalbuminemia, Hepatic steatosis, Hypothyroidism, Hepatome... OMIM:619487
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Hypoglycemia, Cache... ORPHA:42
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Malignant hyperthermia, Hepatic... OMIM:614921
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Neuroectodermal Melanolysosomal Disease
Myopia, Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Abnorm... ORPHA:33445
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Cerebral visual impairment, Flexion contracture, Hip dyspla... OMIM:618379
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... OMIM:607459
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Depressed nasal bridge, Short stature, A... OMIM:162100
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap OMIM:251220
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Ataxia, Short stature, Tremor, Splenomega... ORPHA:87876
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... OMIM:610140
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Elevated c... OMIM:615980
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Visual loss, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Abno... ORPHA:79262
Mitochondrial Trifunctional Protein Deficiency
Equinus calcaneus, Hypocalcemia, Lethargy, Lower limb muscle weakness, Hypoparathyroidism, Tricus... ORPHA:746
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulating creatine k... OMIM:615084
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, Calf muscle ps... ORPHA:79083
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... ORPHA:99901
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cimdag Syndrome
Hepatomegaly, Retinal dystrophy, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Chorea,... OMIM:619273
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... ORPHA:330050
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Dehydration, Lethargy, Failure to thrive ORPHA:28
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation, Hy... OMIM:620270
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Fever, Ataxia, Portal hypertension, Elevated circula... OMIM:615688
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Dehydration, Hyperammo... OMIM:251000
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Decreased activity of m... OMIM:616811
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... ORPHA:401768
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges (feet), Increased int... ORPHA:280365
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Dk1-Cdg
Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C... ORPHA:91131
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Filippi Syndrome
Cerebellar atrophy, Dystonia, Ventricular septal defect, Underdeveloped nasal alae, 2-4 toe synda... OMIM:272440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Anteverted nares, Scotoma, Tapered fing... OMIM:616505
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Short stature, Cardiomegaly, Facial edema... OMIM:256550
Peho-Like Syndrome
Cerebellar atrophy, Edema, Tapered finger, Optic atrophy, Myoclonus, Short nose OMIM:617507
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrh... OMIM:300845
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Short metacarpal, Ventricular septal defect, Retin... OMIM:616651
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Hypothermia, Cardiomega... OMIM:601005
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, ... ORPHA:96
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Wide nose, Small for gestational age, Ventricular septal defect, Short stature, Sp... OMIM:614261
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Dehydration, Severe failure to thrive, Intrauterine growth ... OMIM:601410
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Defec... OMIM:278800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Elevated circulating creatine kinase concentration, Achilles tendon contracture, D... OMIM:607155
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Delayed puberty, Clinodactyly of the 5th finger, Sh... ORPHA:217340
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Decreased activity of mitochondrial com... ORPHA:478029
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Hypothermia... ORPHA:159
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circ... ORPHA:352447
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Skeletal muscle atrophy, Postnatal growt... OMIM:615419
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ... OMIM:310200
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hep... ORPHA:14
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Depressed nasal bridge, Hypoplasia of the m... ORPHA:231226
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Short stature, Tremor, Oromotor apraxia, Primary hy... ORPHA:300536
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Optic atrophy, Growth delay, Hypertonia, Intrauterine gro... ORPHA:1495
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal neurop... ORPHA:101077
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cardiomegaly, Choreoathetosis, Loss of ambulation, Retinal degeneration... ORPHA:391428
Childhood-Onset Nemaline Myopathy
Polyhydramnios, Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predomin... ORPHA:171439
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Broad nasal tip, Overweight, Flexion contracture, Recurr... ORPHA:391372
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal pelvic girdle bone morphology, Abnormal cardiac septum morphology, Hip dy... ORPHA:2370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Bifid nasal tip, Tremor, Optic atrophy, Wide nasal bridge, Spasticity, Cerebral cortical ... OMIM:300983
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:258450
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Myopia, Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Inab... OMIM:613155
19P13.12 Microdeletion Syndrome
Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Hypothyroidism, Hepatic steatos... ORPHA:254346
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Flexion contracture, Hypertonia, Progressive spasticity, Loss of ambulation, Generalized ... ORPHA:137898
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Cerebral atrophy, Hyp... OMIM:614857
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, N... ORPHA:90673
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Retinal dystrophy, Tremor, U... OMIM:614867
Riboflavin Transporter Deficiency
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Limb muscle w... ORPHA:97229
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Roifman Syndrome
Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Retinal... ORPHA:353298
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Overweight, Broad nas... ORPHA:401923
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebe... OMIM:164500
Beta-Thalassemia Major
Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, Depressed nasal bridge, Hypop... ORPHA:231214
Reticular Dysgenesis
Fever, Dehydration, Weight loss, Abnormality of mitochondrial metabolism, Failure to thrive, Apla... ORPHA:33355
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... OMIM:615924
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Wide nose, Inability to walk, Metaphyseal widening, Flexion contracture, Clubbing, ... OMIM:617303
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... ORPHA:171445
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, C... OMIM:618321
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotem... ORPHA:391417
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Athetoid cerebral palsy, Choreoathetosis, Hyper... OMIM:618218
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Myopia, Incoordination, Ventricular septal defect, Ataxia, Depressed nasal bridge, Sh... ORPHA:369891
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture OMIM:619470
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hy... OMIM:602541
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
3C Syndrome
Adrenal hypoplasia, Abnormal tricuspid valve morphology, Chorioretinal coloboma, Atrial septal de... ORPHA:7
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Autosomal Agammaglobulinemia
Fever, Hepatitis, Dehydration, Cellulitis, Failure to thrive ORPHA:33110
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Abnormality of vision, Abnormality of the liver... ORPHA:1606
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Shoulder dislocation, Axona... ORPHA:404454
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Growt... OMIM:231530
Congenital Enterovirus Infection
Fever, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hypothermia, Hydrops fet... ORPHA:292
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrh... ORPHA:280679
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Decreased activity of mitochondrial c... OMIM:616501
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy, Myopathy ORPHA:79087
Stickler Syndrome Type 1
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Mitral valve prolaps... ORPHA:90653
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Chronic Hiccup
Abnormality of the diaphragm, Dehydration, Weight loss ORPHA:396
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cerebral palsy, Ataxia, Depressed nasal bridge, Polyhydramnios, Coxa valga, S... OMIM:619833
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinsk... ORPHA:521406
Miller-Dieker Syndrome
Omphalocele, Ataxia, Anteverted nares, Polyhydramnios, Growth delay, Clinodactyly of the 5th fing... ORPHA:531
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Myopia, Ventricular septal defect, Bicuspid aortic valve, Depressed nasa... ORPHA:284169
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Hypoglycemia, Ambl... OMIM:617710
Central Diabetes Insipidus
Fever, Hyponatremia, Dehydration, Weight loss, Lethargy, Failure to thrive, Diabetes insipidus ORPHA:178029
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Ventricular septal defect, Ataxia, Short stature, Sit... OMIM:249270
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Hypothermia, Cerebral visual impairment, Inability to walk, Chorea, Spasticity OMIM:618557
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Decreased activ... OMIM:256810
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Failure to thrive, Depressed nasal bridge, Edema, Pericardial e... OMIM:608776
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Tremor, Gait disturbance, Arrhythmia ORPHA:29822
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Failure to thrive, Small for gestational age, Hypoglycemia, Cardiomegaly, Perica... OMIM:614702
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Long toe, Mesenteric cyst, Myopia, Ventricular septal defect, Overlapping toe, Parac... OMIM:618316
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Ventricular tachycardia, Upper limb mus... ORPHA:263297
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Skeletal musc... ORPHA:436271
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Myopia, Anteverted nares, Tremor, Inability to walk, Optic atrophy, Dysmetria... OMIM:617810
Seckel Syndrome 10
Metaphyseal widening, Glucose intolerance, Hepatic steatosis, Elevated circulating aspartate amin... OMIM:617253
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Dehydration, Photophobia, Hypophosphatemic rickets... OMIM:219800
Congenital Tufting Enteropathy
Choanal atresia, Optic disc coloboma, Dehydration, Weight loss, Photophobia, Cholestatic liver di... ORPHA:92050
Chromosome 14Q11-Q22 Deletion Syndrome
Anterior pituitary hypoplasia, Cerebral visual impairment, Bilateral cryptorchidism, Elevated cir... OMIM:613457
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu... OMIM:304700
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Optic atrophy,... OMIM:615042
Vipoma
Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neo... ORPHA:97282
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Depressed na... OMIM:619418
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas... ORPHA:210548
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Short stature, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... ORPHA:442835
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Short stature, Decreased nerve conduction velocity, Splenomegaly... ORPHA:812
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Metatarsus adductus, Cryptorchidi... OMIM:214110
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Incoordination, Ventricular s... OMIM:614947
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Wide nose, Small for gestational age, Dorsocervical fat pad, Down-sloping shoul... ORPHA:391408
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Prominent fingertip pads, Tachycardia, Myopia, Decreased response to growth hormon... ORPHA:485405
Verheij Syndrome
Ventricular septal defect, Truncus arteriosus, Small for gestational age, Optic nerve hypoplasia,... OMIM:615583
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... ORPHA:2229
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Beta-Ketothiolase Deficiency
Fever, Hepatomegaly, Ataxia, Hypoglycemia, Edema, Dehydration, Weight loss, Hyperglycemia, Hypert... ORPHA:134
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Congestive heart failure, Diplopia, Unsteady gait, Opti... OMIM:619259
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Ataxia, Abnormal mitochondrial shape, Ce... ORPHA:543470
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Prominent U wave, Abnormal T-wave, Periodic hypokalemic paresis,... ORPHA:37553
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Heart block, Splenomegaly, Di... ORPHA:398124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Unsteady gait, Cardiomyopathy, Pigmentary retinopathy, T... OMIM:520000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Cerebral visual impairment, Abnormality of vision, Atrial septal defect, P... ORPHA:438213
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Lower limb spasticity, Diabetes mellitus, Optic atrophy, Abnormal pyramidal sign, C... ORPHA:1177
Choreoacanthocytosis
Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Cho... ORPHA:2388
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormality of vision, Abnormal cardiac... ORPHA:1200
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Diabetes me... ORPHA:1215
Meningococcal Meningitis
Shock, Papilledema, Fever, Hypothermia, Elevated circulating C-reactive protein concentration, Ph... ORPHA:33475
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, H... ORPHA:488632
Adrenomyeloneuropathy
Peripheral axonal degeneration, Distal lower limb muscle weakness, Very long chain fatty acid acc... ORPHA:139399
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Depressed nasal bridge, Short stature, Spastic tetraparesis, Inability to wal... ORPHA:438178
Pierpont Syndrome
Decreased body weight, Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Short toe, Shor... OMIM:602342
Pyruvate Carboxylase Deficiency
Tremor, Abnormal pyramidal sign, Dehydration, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Atax... ORPHA:3008
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram... OMIM:128100
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Cardiomegaly, Pro... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-s... OMIM:617872
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Depressed nasal bridge, Sho... OMIM:232400
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... ORPHA:363528
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Anteverted nares, Cryptorchidism, Abnormal pancrea... ORPHA:2849
Oculodentodigital Dysplasia
Abnormality of vision, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Myopia... ORPHA:2710
Vici Syndrome
Wide nose, Left ventricular hypertrophy, Macular atrophy, Depressed nasal bridge, Elevated circul... OMIM:242840
16Q24.3 Microdeletion Syndrome
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Anteverte... ORPHA:261250
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... OMIM:615895
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Hypog... ORPHA:2394
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, ... OMIM:616897
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Photophobia, Male hypogonadism, Hepatomegaly, Abnorm... ORPHA:90321
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1458
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Wide nose, Short stature, Flexion contracture, Optic atrophy, Spastic tetrapl... OMIM:615851
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... ORPHA:2131
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Edema,... ORPHA:226316
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly, Short nose OMIM:300577
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Dysmetria, Gait ataxia, I... ORPHA:95
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Hyperthyroidism, Short stature, Tremor, Increased variability in muscle fiber ... ORPHA:502423
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Visual loss, Unsteady gait, Opti... OMIM:256600
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Absent t... ORPHA:96097
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Viss Syndrome
Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Patent f... OMIM:619472
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Anteverted nares, Ventricular septal defect, Rocker bottom foot, Spastic tetr... OMIM:618506
Warburg Micro Syndrome 3
Decreased testicular size, Lower limb spasticity, Decreased muscle mass, Cerebral visual impairme... OMIM:614222
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Malignant hyperthermia, Knee flexion contracture, Hernia, Spina bifida occulta, W... OMIM:193700
Tonne-Kalscheuer Syndrome
Decreased testicular size, Broad-based gait, Short stature, Prominent nasal bridge, Congenital di... OMIM:300978
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Dehydration, A... ORPHA:556030
4H Leukodystrophy
Cerebellar atrophy, Myopia, Dystonia, Ataxia, Short stature, Decreased response to growth hormone... ORPHA:289494
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Toe clinodactyly, Short nose ORPHA:261120
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Short stature, Subr... ORPHA:357074
Jaberi-Elahi Syndrome
Appendicular spasticity, Myopia, Broad-based gait, Depressed nasal bridge, Tremor, Inability to w... OMIM:617988
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... OMIM:619473
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Intrauterine growth ... OMIM:619573
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Atrial septal defect, Lethargy, Intrahepatic biliary dysgenesis, H... OMIM:614866
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creati... ORPHA:228305
Alg3-Cdg
Lipodystrophy, Spastic tetraparesis, Abnormality of the nose, Abnormality of the endocrine system... ORPHA:79321
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Vitritis, Retinal dysplasia, Tricuspid ... ORPHA:2556
Donnai-Barrow Syndrome
Omphalocele, Retinal detachment, Diaphragmatic eventration, Ventricular septal defect, Retinal dy... OMIM:222448
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Skeletal muscle atrophy, Ataxia, Heart blo... ORPHA:773
Secondary Short Bowel Syndrome
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weig... ORPHA:95427
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Edema, Short stature, Partial duplicati... OMIM:618348
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Short stature, Splenomegaly, Abnormal pyramidal si... ORPHA:93476
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Tremor, Abnorma... ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of... OMIM:615578
Alexander Disease
Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Clonus, Tremor, Precocious puberty... ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Polyhydramnios, Tremor, Bila... OMIM:300998
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor, Congenital ... ORPHA:3455
Smith-Magenis Syndrome
Retinal detachment, Myopia, Toe syndactyly, Failure to thrive in infancy, Anteverted nares, Depre... ORPHA:819
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... OMIM:300257
Rhiny
Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... ORPHA:48818
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia, Hypothermia OMIM:615026
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Decrease... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Elevated circulating creatine kinase co... OMIM:618387
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Dehydrati... ORPHA:94093
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Optic ... ORPHA:2260
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... OMIM:610600
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:620300
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Tremor, Dehydration, Hyperammonemia, Hyperglycinemia, Decre... OMIM:251100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:329178
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Elevated hepatic transaminase, Hypothyroidism, Abnormal pyramidal sign, Cereb... ORPHA:445038
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Short stature, Left ventricular noncompaction cardiomyopathy, Hypoglycemia OMIM:248360
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microvesicular hepatic steatosis, Chorea, Decreased activity of mitochondrial... OMIM:616672
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Myopia, Dystonia, Ataxia, Short stature, Postural tremor, Hypogonadotropic hy... OMIM:607694
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Short stature, Elevated circulating creatine kinase concentration, Tremo... OMIM:617675
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Small for gestational age, Iliac crest serration, Anteverted nares, Cardiomegaly, Wide... OMIM:613320
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Lower limb ... OMIM:606721
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... ORPHA:652
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Polyhydramnios, Cardiomyopathy, Myopathy, Stillbirth, Decreased liver function, Ton... OMIM:614922
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level, Dehydration, Weight loss, Letharg... OMIM:143880
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Decreased serum iron, Visual loss, Dilated cardiomyopathy, Flexion contr... ORPHA:89842
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Blindness, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, ... ORPHA:79263
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Hydrops fetalis, Abnormal odontoid tissue morphology, Decerebrate rigid... ORPHA:79255
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Tremor, ... ORPHA:480907
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Narrow nasal bridge, Inguinal hernia, Edema of the dorsum of feet, Edema of t... ORPHA:544503
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:614300
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres... OMIM:212138
Arterial Tortuosity Syndrome
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Myopia, Femoral hernia, Arachno... ORPHA:3342
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short stature ORPHA:2015
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Tremor, Cryptorchidism, Abnormality of mitochondrial metabolism, Hypertension, Hyp... ORPHA:1192
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Optic atrophy, Epiphyseal stippling, M... ORPHA:1914
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Prominent nos... OMIM:601808
Pde4D Haploinsufficiency Syndrome
Prominent nose, Short metatarsal, Elevated circulating parathyroid hormone level, Bilateral coxa ... ORPHA:439822
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Babinski sign, Br... OMIM:619063
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia... ORPHA:79474
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... ORPHA:98907
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchid... OMIM:243310
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Spastic tetra... ORPHA:171839
Distal Deletion 10Q
Clonus, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Prominent fingertip pads,... ORPHA:96148
Peho Syndrome
Cerebellar atrophy, Edema of the dorsum of feet, Edema, Tapered finger, Edema of the dorsum of ha... OMIM:260565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Tremor, Chorea, Hepatic steatosis, Waddling g... OMIM:615356
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Growth delay, Dystonia, Clinoda... OMIM:619422
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Babinski sign, Optic atrophy, ... OMIM:229300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of chromosome stability, Diab... ORPHA:100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Clonus, Hypertonia, Chorioretinal coloboma, Hepatic steatosis, Intention t... OMIM:619475
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Akinesia... OMIM:608013
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Hurler Syndrome
Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Retinal degenerati... OMIM:607014
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Lipodystrophy, A... OMIM:613327
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myopia, Inguinal hernia, Arachnodactyly, Myocardial infarction, Mitral valve prolapse, Hyperhomoc... OMIM:236200
C Syndrome
Omphalocele, Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverte... OMIM:211750
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Inability to walk, Con... ORPHA:505248
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Tapered fi... OMIM:613870
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait... OMIM:614863
Joubert Syndrome With Hepatic Defect
Tremor, Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary axis, Hepatomegaly, Ata... ORPHA:1454
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Peripheral axonal neuro... ORPHA:298
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Tay-Sachs Disease
Skeletal muscle atrophy, Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolis... ORPHA:845
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Overlapping toe, Anteverted nares, Short st... OMIM:613026
Cockayne Syndrome A
Abnormal peripheral myelination, Prominent nose, Tremor, Ivory epiphyses of the phalanges of the ... OMIM:216400
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Tremor, Diplopia, Amyloid deposition in the v... OMIM:105210
Refsum Disease, Classic
Short fourth metatarsal, Ataxia, Cardiomegaly, Congestive heart failure, Nyctalopia, Anosmia, Lim... OMIM:266500
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Growth delay, Increased circulating renin level, Hypoten... OMIM:203400
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Right hemiplegia, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogon... OMIM:607426
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Dehydration, Hyperammonemia, ... OMIM:615453
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Optic atrophy, Pigmentary retinopa... OMIM:220110
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Myopathy, EMG: my... ORPHA:71
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Enteric Anendocrinosis
Portal hypertension, Cholestatic liver disease, Dehydration, Type I diabetes mellitus ORPHA:83620
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Cerebral atrophy, Hyperprolinemia, Neonatal death, Hyperalaninemia... OMIM:615918
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... OMIM:616719
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Abnormal hear... OMIM:618571
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Hypothyro... ORPHA:268261
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Short nose, Small for gestational age, Short stature OMIM:245570
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Broad nasal tip, Obesity, Short nose OMIM:613670
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Menkes Disease
Decreased circulating ceruloplasmin concentration, Short stature, Metaphyseal spurs, Hypothermia,... OMIM:309400
Wolfram Syndrome 1
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Optic atrophy, Limited mobility of proxima... OMIM:222300
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... OMIM:616730
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Tremor, Pedal ed... OMIM:277900
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Panniculitis, Smal... OMIM:608068
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... OMIM:608612
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Increased serum pyruvate, Small for gestational age, Anteverted nares, Tremor, F... OMIM:312170
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Dehydratio... OMIM:619377
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Dehydration, Hepatic fibrosis, Hyponatre... ORPHA:275761
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsuli... ORPHA:230
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Myopia, Anteverted nares, Broad nasal tip, Tremor, Optic atrophy, Dysmetria, ... ORPHA:529665
Jacobsen Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Amblyopia, Cryptorchidism, F... OMIM:147791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Proximal placement of thumb, Dysmetria, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Hepa... OMIM:616263
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Dehydration, Hyperammonemia, Hyperglycinemia, Decreased met... OMIM:251110
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, Generalized amyotrophy, Hypothermia OMIM:610006
Hurler Syndrome
Abnormal pyramidal sign, Hernia, Endocardial fibroelastosis, Abnormal nerve conduction velocity, ... ORPHA:93473
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Tremor, Retrobulbar optic neuriti... OMIM:619737
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Wide nas... ORPHA:765
Oculocerebral Hypopigmentation Syndrome, Cross Type
Myopia, Inguinal hernia, Arachnodactyly, Ataxia, Anteverted nares, Depressed nasal bridge, Abnorm... ORPHA:2719
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Prominent nasal bridge, Congenital diaphragmatic hernia, Pro... ORPHA:251071
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Bulbous nose, Tip-toe gait, Gait disturbance, Myoclonus, Retr... OMIM:617284
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Cerebral visual impairment, Hypertonia, ... OMIM:115150
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:264350
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Lymphedema, Cardiomegaly, S... OMIM:300855
Shigellosis
Fever, Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Myocarditis, Peritonitis, Rhabdo... ORPHA:810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Decreased activity of mi... OMIM:124000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short... OMIM:619013
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Decreased nerve conduction velocity, Bu... ORPHA:969
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Polyhydramnios ORPHA:1450
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Autophagic vacuoles, Elevated circulating c... OMIM:164310
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Arachnodactyly, Facial hypotonia, Cerebral atrophy, Mitral valve prolapse, Atrop... OMIM:615539
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Hypothermia, Cryptorchidism, Growth delay, Myoclonus, Abnormal autonomic nervous ... ORPHA:168593
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Babinski ... OMIM:608643
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ... OMIM:611302
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Myopia, Anteverted nares, Depressed nasal bridge, Coxa valga, Wide anterior f... ORPHA:163649
Trisomy 18
Omphalocele, Abnormality of retinal pigmentation, Ventricular septal defect, Camptodactyly of fin... ORPHA:3380
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Short nose, Brachydactyly ORPHA:221054
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... OMIM:617013
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Hypertonia,... OMIM:618828
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Clonus, Hypoammonemia, Dehydration, Hyponatremia, S... ORPHA:534
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Raynaud phenom... ORPHA:3260
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Anteverted nare... OMIM:619343
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Optic at... OMIM:261680
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Edema, Postaxial polydactyly, Rigidity, Long fi... OMIM:617527
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dyst... OMIM:612438
Isolated Complex I Deficiency
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Blindness, Ataxia, Diabetes mellitus, ... ORPHA:2609
Cartilage-Hair Hypoplasia
Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Hypocalcemia, Sh... ORPHA:175
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:607872
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Pa... OMIM:618454
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Tremor, Inability ... OMIM:312080
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:608594
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Myopia, Caudate atrophy, Tremor, Unsteady gait, Small hand, Abnormal pyramida... OMIM:617435
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Myopia, Ataxia, Short stature, Hypogonadotropic hypogonadism, Tremor, Optic a... OMIM:614381
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Elevated circulating thyroid-stimulating hormone concentration, Tibial... OMIM:601812
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity, Abnormality of extrapyramida... OMIM:258501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperalaninemia, Inguinal hernia, Small for gestational age, Ataxia, Anteverted nares, Decreased ... OMIM:614052
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:608779
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... ORPHA:79095
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... ORPHA:521426
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Musculocontractural Ehlers-Danlos Syndrome
Retinal detachment, Inguinal hernia, Myopia, Abnormal heart valve morphology, Decreased muscle ma... ORPHA:2953
Lowry-Maclean Syndrome
Inguinal hernia, Choanal atresia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abno... ORPHA:2409
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hyp... ORPHA:79345
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Peho Syndrome
Cerebellar atrophy, Palpebral edema, Anteverted nares, Tapered finger, Visual loss, Flexion contr... ORPHA:2836
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Fasting hypoglycemia, Atrial septal defect, Hypothyroidism, Enlarged ov... ORPHA:769
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Long nose, Opisthotonus, Hypertonia, Narrow greater sciatic notch, Short phalanx ... ORPHA:508533
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Short stature ORPHA:1355
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, Abnormal fing... ORPHA:536471
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Optic a... OMIM:620089
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Congenital hepatic fibrosis, Abnormal... ORPHA:2031
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Flexion contracture, Sm... OMIM:300055
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of vision, Spastic dysarthria, ... ORPHA:282166
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Atrial septal... OMIM:616854
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Microsporidiosis
Fever, Myositis, Cholangitis, Cachexia, Myocarditis, Abnormality of the spleen, Peritonitis, Bili... ORPHA:2552
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose, Gait disturbance, Spasticity ORPHA:2429
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Recurrent upper respiratory tract infections, Babinski sign... ORPHA:225147
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Ataxia, Total anosmia, Nyctalopia, Anosmia, Reduced visu... OMIM:614879
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... OMIM:228520
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Tremor, Growth delay, Decreased serum creatinine, Atrial se... OMIM:617744
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:177735
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Anteverted nares, Broad hallux, Depressed nasal bridge, Retinal pigment e... OMIM:614105
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Ataxia, Inability to walk, Short nose, Dysmetria, Hypermetropia, Spasticity, Dystonia... OMIM:618087
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve... OMIM:305400
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Gait disturbance, Abnorm... ORPHA:99014
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Harlequin Ichthyosis
Sudden cardiac death, Depressed nasal ridge, Dehydration, Malignant hyperthermia, Hand polydactyl... ORPHA:457
Aicardi-Goutieres Syndrome 7
Edema, Hypertonia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Pericardial effusion, Vasculi... OMIM:615846
Cockayne Syndrome B
Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges of the hand, Square pel... OMIM:133540
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Cryptorchidism, Short nose, Convex nasal ridge ORPHA:1695
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Cryptorchidism, Obesity, Hypermetropia, Hip dysplasia, Clinodac... OMIM:617991
17P13.3 Microduplication Syndrome
Wide nose, Inguinal hernia, Congenital hip dislocation, Clinodactyly of the 5th finger, Short nose ORPHA:217385
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Hypoplasia of the ulna, Ataxia, Anteverted nares, Depressed nasal bridge, Lar... OMIM:615398
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Bowing of the long bones, Hypoglycemia, Tarsal syno... ORPHA:565
Encephalopathy Due To Sulfite Oxidase Deficiency
Myopia, Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Spasticity, Short nose ORPHA:833
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Congenital diaphrag... OMIM:614080
Neurodegeneration With Brain Iron Accumulation 4
Elevated circulating creatine kinase concentration, Tremor, Abnormal pyramidal sign, Loss of ambu... OMIM:614298
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Ataxia, Short stature, Chaddock reflex, Elevated circulating creat... ORPHA:96180
Cockayne Syndrome
Skeletal muscle atrophy, Photophobia, Congenital contracture, Retinal arteriolar constriction, Pr... ORPHA:191
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Arachnodactyly, Anteverted nares, Inability to walk, Bulbous nose, Babin... OMIM:616420
Glutamine Deficiency, Congenital
Hypoglutaminemia, Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal bridg... OMIM:610015
Achondrogenesis Type 1B
Severe short stature, Femoral hernia, Anteverted nares, Polyhydramnios, Disproportionate short st... ORPHA:93298
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Babinski sign, De... OMIM:500013
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Anteverted nares, Abnormal testis morpholo... ORPHA:96147
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Anteverted nares, Short statu... ORPHA:109
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Nyctalopia, ... OMIM:619321
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hep... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Glucose intolerance, Macrovesicular hepatic steatosis, Patent foramen ovale,... OMIM:619127
Micro Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Short stature, Cerebral visual impairment,... ORPHA:2510
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Inguinal hernia, Wide nose, Overlapping toe, Bull's eye ... OMIM:213980
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ventricular septal defect, Prominent nasal bridge, Short thumb, Cryptorchidism, Wi... ORPHA:401935
Monosomy 13Q34
Epistaxis, Prominent nasal bridge, Prominent nose, Broad nasal tip, Hypercalcemia, Postaxial hand... ORPHA:96168
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Anteverted nares, Depressed nasal bridge, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Sp... ORPHA:83629
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... ORPHA:2701
Coffin-Siris Syndrome
Papillary thyroid carcinoma, Hernia, Hepatoblastoma, Atrial septal defect, Thick nasal alae, Myop... ORPHA:1465
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Decreased nerv... ORPHA:329478
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dyston... OMIM:617664
Familial Cold Urticaria
Fever, Dehydration ORPHA:47045
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Ataxia, Amblyopia, Tremor, Wide nasal bridge, Dysmetria, Cerebral atrophy, Sp... ORPHA:572798
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin... ORPHA:1328
Al-Raqad Syndrome
Sandal gap, Inability to walk, Gait ataxia, Atrial septal defect, Short nose, Brachydactyly OMIM:616459
Johanson-Blizzard Syndrome
Diabetes mellitus, Short stature, Dextrocardia, Edema, Underdeveloped nasal alae, Abnormality of ... ORPHA:2315
Achondrogenesis Type 1A
Severe short stature, Femoral hernia, Anteverted nares, Polyhydramnios, Hydrops fetalis, Short fo... ORPHA:93299
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, Camptodactyly, In... OMIM:613604
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypog... ORPHA:465508
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Decreased muscle mass, Depressed... OMIM:261515
Cardiofaciocutaneous Syndrome
Myopia, Failure to thrive in infancy, Abnormal heart valve morphology, Abnormal morphology of uln... ORPHA:1340
Occipital Horn Syndrome
Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Aplastic clavic... ORPHA:198
Joubert Syndrome With Ocular Defect
Retinal dystrophy, Dextrocardia, Ataxia, Aganglionic megacolon, Anteverted nares, Prominent nasal... ORPHA:220493
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares, Intrauterine growth retardation ORPHA:1832
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Hypertonia, Choanal stenosis... OMIM:602535
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short stature, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmi... ORPHA:2326
Primary Erythromelalgia
Vasculitis, Hypothermia ORPHA:90026
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Flexion co... OMIM:614225
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Tremor, Microvesicular hepatic steatosis, Aortic valve atresia, Dysmetria,... OMIM:220111
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Inc... ORPHA:289548
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosplen... OMIM:232500
Cystic Fibrosis
Hepatomegaly, Nasal polyposis, Cor pulmonale, Biliary cirrhosis, Dehydration, Hepatosplenomegaly,... OMIM:219700
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Hypokalemia, Failure to thrive, Dehydration OMIM:602722
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Abnor... ORPHA:363417
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Decreased liver function, Persistent paten... OMIM:601466
Chédiak-Higashi Syndrome
Edema, Tremor, Photophobia, Hyponatremia, Ataxia, Parkinsonism, Pericardial effusion, Hepatosplen... ORPHA:167
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Dehydration, Hypophosphatemi... ORPHA:411629
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Increased circulating reni... ORPHA:168558
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Overlapping toe, Anteverted nares, Edema, Depressed nasal bridge, Pericardia... OMIM:617822
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Gait ataxia, Atrophy/Degeneration involving the... ORPHA:70595
Dpagt1-Cdg
Tremor, Flexion contracture, Intracranial hemorrhage, Hypertonia, Diffuse optic disc pallor, Hepa... ORPHA:86309
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, Ventricular s... ORPHA:457279
Chromosome 6Q11-Q14 Deletion Syndrome
Inguinal hernia, Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism... OMIM:613544
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex II... OMIM:252010
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Sh... OMIM:614613
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Abnormal mitochondrial shape, Unsteady gait, Cerebral a... ORPHA:412217
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Flexion contracture, Generalized amyotrophy, Waddling gait, Hepatomegaly, Scapula... OMIM:620369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, Myopia, Arachnodactyly, Anteverted nares, Depr... ORPHA:536467
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hydr... OMIM:557000
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Retinal degeneration, Papilledema, Hepatomegaly, Large centr... ORPHA:580
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Tetraplegia, Bradycardia, Fa... OMIM:610768
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Tibial bowing, Hypertonia, Clinodactyly of the 5th finger, Broad hallux, Cryptorchidism, Hypermet... ORPHA:251028
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage, Dehydration OMIM:243500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Dehydration, Hype... OMIM:263200
Achondrogenesis
Inguinal hernia, Severe short stature, Anteverted nares, Polyhydramnios, Hydrops fetalis, Umbilic... ORPHA:932
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Dehydration, Hypoalbuminemia, Lethargy, Inter... ORPHA:99826
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Decreased liver function, Dehydration OMIM:602199
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver,... ORPHA:247691
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... ORPHA:397744
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Sandal gap, Depressed nasal bridge, Tapered finger, ... OMIM:617061
Mandibuloacral Dysplasia With Type A Lipodystrophy
Acroosteolysis of distal phalanges (feet), Flexion contracture, Hyperglycemia, Calcinosis, Hepato... OMIM:248370
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Cryptorchidism, Coxa vara, Abnorm... ORPHA:1988
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Retinal crystals, Optic neuropathy, Raynaud phenomen... OMIM:259900
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Hypothermia... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia,... ORPHA:51
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, I... OMIM:182410
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Hypopigmentation of the fundus, Finger syndactyly, Tapered finger... OMIM:200990
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... ORPHA:457395
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenes... OMIM:608800
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hyperalan... OMIM:618250
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Spasti... OMIM:251120
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... ORPHA:79303
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Failure to thrive, Short stature, Hepatic fibrosis OMIM:613989
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... OMIM:206920
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Abnormality of the nose, Tremor, Ri... ORPHA:70594
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal m... OMIM:619518
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Short stature, Postaxial polydactyly, Corneal scarring, Pigmentary retin... OMIM:618460
Smith-Kingsmore Syndrome
Depressed nasal bridge, Rhizomelia, Diastasis recti, Large for gestational age, Short proximal ph... OMIM:616638
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Myopia, Congenital hip dislocation, Ventricular septal defect, Anteverted nare... OMIM:244450
Cutis Laxa, Autosomal Recessive, Type Iia
Myopia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Wide anteri... OMIM:219200
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Broad hallux, Sandal gap, Anteverted nares, B... OMIM:618529
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Photophobia, Ret... ORPHA:90324
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depresse... ORPHA:1327
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Myopia, Depressed nasal bridge, Ankle flexion contracture, Inability to walk,... OMIM:617802
Cholera
Fever, Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Dehydration, Hy... ORPHA:173
Infantile Liver Failure Syndrome 1
Long toe, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Long fingers, Failu... OMIM:615438
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Dehydration, Premature adrenarche, H... ORPHA:90794
Sweet Syndrome
Myositis, Elevated circulating C-reactive protein concentration, Non-periodic recurrent fever, Di... ORPHA:3243
Teebi Hypertelorism Syndrome 1
Omphalocele, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Short stature, ... OMIM:145420
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Long nose... OMIM:617602
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Frontal cortical atrophy, Short nose ORPHA:228384
Bartter Syndrome, Type 1, Antenatal
Fever, Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Short stature, Polyhydra... OMIM:601678
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Wide anterior ... OMIM:217980
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Anteverted nares, Obesity, Clinodactyly, Short nose, Low hang... OMIM:617752
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Transposition of the great arteries, Atrial se... ORPHA:1913
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Sandal gap, Anteverted nares, Short stature, Paroxysmal supraventricular tachycardia, Short toe, ... OMIM:617877
Sarcoidosis
Abnormal nasal mucosa morphology, Heart block, Ventricular tachycardia, Hypothyroidism, Hepatomeg... ORPHA:797
Bainbridge-Ropers Syndrome
Arachnodactyly, Prominent nasal bridge, Polyhydramnios, Anteverted nares, Depressed nasal bridge,... OMIM:615485
Gaucher Disease
Elevated circulating C-reactive protein concentration, Tremor, Hydrops fetalis, Cherry red spot o... ORPHA:355
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Decreased response to growth hormone stimulation test, Delayed epiphy... OMIM:616007
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... ORPHA:101330
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypertonia, ... OMIM:270400
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Rhizomelia, Short st... ORPHA:93329
Tetrasomy 5P
Pericallosal lipoma, Overlapping toe, Anteverted nares, Short hallux, Postnatal growth retardatio... ORPHA:3309
Chops Syndrome
Ventricular septal defect, Anteverted nares, Short stature, Splenomegaly, Cryptorchidism, Optic a... OMIM:616368
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Ab... OMIM:601559
Den Hoed-De Boer-Voisin Syndrome
Tremor, Abnormality of vision, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, 2-3 toe synd... OMIM:619229
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Short stature, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip... OMIM:300749
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar... ORPHA:293987
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, H... OMIM:620125
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Broad nasal tip, Inability to walk, Wide nasal bridge, Shortening of all d... OMIM:615716
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Short stature, Tremor, Flexion contracture, Defective DNA repair after ultraviolet radiat... OMIM:278760
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Elevated circu... OMIM:618528
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal defect,... ORPHA:476126
Ruvalcaba Syndrome
Inguinal hernia, Short metacarpal, Brachydactyly, Proximal placement of thumb, Cryptorchidism, Sm... ORPHA:3121
Down Syndrome
Myopia, Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Depressed nasal ridge, Obesity... ORPHA:870
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Lower limb spasticity, Ataxia, Decreas... ORPHA:206443
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate... ORPHA:69076
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... ORPHA:309854
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Depressed nasal bridge, Shor... OMIM:617140
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Polyhydramnios, Hip dislocation, Wide nasal bridge, Atrial septal de... OMIM:618005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Lower limb spasticity, Anteverted nares, Depressed nasal bridge, P... OMIM:300868
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Precocious puberty, Short distal phalanx of toe, Atrial septal defect, Short no... OMIM:619356
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Ventricular septal defect, Optic atrophy, Growth delay, Short nose, Cerebral co... OMIM:234050
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... ORPHA:1529
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Myopia, Sandal gap, Ataxia, Depressed nasal bridge, Tapered finger, Bulbous nose, Poor coordinati... OMIM:618430
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, At... OMIM:243800
Odontochondrodysplasia
Bowing of the long bones, Depressed nasal bridge, Short stature, Coxa valga, Cone-shaped epiphysi... ORPHA:166272
Fetal Valproate Spectrum Disorder
Omphalocele, Short nose, Depressed nasal ridge ORPHA:1906
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Wide nasal bridge, Genu valgu... OMIM:614078
Diaphanospondylodysostosis
Inguinal hernia, Depressed nasal bridge, Increased nuchal translucency, Depressed nasal ridge, Di... OMIM:608022
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Abno... ORPHA:263455
Gapo Syndrome
Hepatomegaly, Anteverted nares, Facial palsy, Depressed nasal bridge, Retinal arteriolar tortuosi... OMIM:230740
Geleophysic Dysplasia 1
Hepatomegaly, Anteverted nares, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Short st... OMIM:231050
20Q11.2 Microduplication Syndrome
Inguinal hernia, Palpebral edema, Anteverted nares, Depressed nasal bridge, Periorbital edema, Cr... ORPHA:363659
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Aplas... ORPHA:264450
Marshall Syndrome
Retinal detachment, Myopia, Radial bowing, Anteverted nares, Depressed nasal bridge, Short statur... OMIM:154780
Bartter Syndrome, Type 3
Hyperchloriduria, Abnormal retinal vascular morphology, Dehydration, Hyperactive renin-angiotensi... OMIM:607364
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Anteverted nares, Polyhydramnios, Cryptorchidism, Wide nasal bridge... OMIM:247200
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Tre... ORPHA:94080
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Ataxia, Epistaxis, Cardiac arrest, Tremor, Sple... ORPHA:99745
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Growth delay, Hypochloremia, Hyperactive renin-angiote... OMIM:214700
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Depressed nasal bridge, Cerebral visual impairment, Long nose, Optic atrophy,... OMIM:618590
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Ataxia, Equinus calcaneus, Chorea, 2-3 toe syndactyly, Hypermet... ORPHA:522077
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:881
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... OMIM:601224
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Short stature, Small for gestational age, Hypertonia, Myoclonus, Short ... ORPHA:289266
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Depressed nasal bridge, Hypoglycemia, Wide anterior fontanel, Jaundice, Electron tr... OMIM:231680
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Abnormal he... OMIM:239300
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... OMIM:269250
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnios,... ORPHA:373
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal ed... OMIM:106100
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Anteverted nares, ... OMIM:618619
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Tapered finger, Coxa valga, ... OMIM:301040
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Small for gestational age, Depressed nasal bridg... OMIM:614114
Bartter Syndrome, Type 2, Antenatal
Fever, Hyperchloriduria, Small for gestational age, Short stature, Polyhydramnios, Increased seru... OMIM:241200
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short stature, Optic atrophy, Slender long bone, Short nose, Spina bifida occulta ORPHA:1185
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Adenylosuccinase Deficiency
Cerebellar atrophy, Skeletal muscle atrophy, Anteverted nares, Inability to walk, Cerebral atroph... OMIM:103050
Marshall Syndrome
Retinal detachment, Myopia, Anteverted nares, Depressed nasal bridge, Short stature, Amblyopia, A... ORPHA:560
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Inability to walk, 2-3 toe syndactyly, Clinodactyly of ... OMIM:613443
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Abnormal fingertip morphology, Dilated cardiomyopathy, Abnormal blood ion concentration, D... ORPHA:79404
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Ohdo Syndrome, Sbbys Variant
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Dilated cardiomyopathy, Long thumb, Hypothy... OMIM:603736
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... OMIM:218700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Convex nasal ridge, Abnormal fingertip morphology, Hyperlipidemia, Ins... ORPHA:90154
Triosephosphate Isomerase Deficiency
Optic disc pallor, Skeletal muscle atrophy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady ga... OMIM:615512
Geleophysic Dysplasia 2
Hepatomegaly, Short stature, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epiphysis, Sh... OMIM:614185
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ... OMIM:210900
Linear Skin Defects With Multiple Congenital Anomalies 3
Myopia, Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycard... OMIM:300952
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Short nose, Generalized limb muscle atrophy, Delayed puberty ORPHA:2598
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Enamel hypomineralization, Hypovolemia, Bicarbo... ORPHA:47159
Meckel Syndrome, Type 8
Pericardial effusion, Depressed nasal ridge, Polydactyly, Short nose, Enlarged kidney OMIM:613885
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, R... OMIM:613280
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Prominent nasal bridg... ORPHA:1716
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased response to growth... OMIM:614732
Cebalid Syndrome
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Decreased activity of mitochondrial complex IV, 2... OMIM:616539
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Drumstick terminal phalanges, Grow... ORPHA:541423
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Patent foramen ovale, Telangiectases of ... ORPHA:576
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Red-green dyschromatopsia, Limb ataxia, Gait ataxia, Hand t... ORPHA:98764
Glucose-Galactose Malabsorption
Fever, Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive ORPHA:35710
Cadds
Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Adrenal hypoplasia, Cholestasis, ... ORPHA:369942
Arima Syndrome
Hepatomegaly, Blindness, Retinal dystrophy, Ataxia, Postaxial hand polydactyly, Optic atrophy, Po... OMIM:243910
Trisomy 10P
Thumb contracture, Absent gallbladder, Decreased muscle mass, Small for gestational age, Antevert... ORPHA:171929
Stickler Syndrome
Skeletal muscle atrophy, Depressed nasal ridge, Myopia, Arachnodactyly, Abnormal dental enamel mo... ORPHA:828
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulati... OMIM:618839
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Brachydactyly, Proportionate shortening of all digits, Anteverted nares, Elev... ORPHA:280633
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Short nose,... OMIM:616910
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Clumsiness, Prominent fingertip pads, Sh... OMIM:300558
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, Ab... ORPHA:950
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger OMIM:155050
Glucose/Galactose Malabsorption
Failure to thrive, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria OMIM:606824
Intellectual Developmental Disorder, Autosomal Dominant 1
Myopia, Sandal gap, Ataxia, Short stature, Prominent nose, Postnatal growth retardation, Bulbous ... OMIM:156200
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Dehydrati... ORPHA:411634
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Vocal cord paralysis, Early onset of sexual maturatio... OMIM:194050
Dend Syndrome
Anteverted nares, Elevated hemoglobin A1c, Dehydration, Hyperglycemia, Clinodactyly of the 4th fi... ORPHA:79134
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Ataxia, Depressed nasal bridge, Unsteady gait, Broad columella, Hypertonia, Pro... OMIM:617865
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperl... ORPHA:444490
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... OMIM:609945
Opsismodysplasia
Hepatomegaly, Severe short stature, Depressed nasal bridge, Tapered finger, Splenomegaly, Squared... ORPHA:2746
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Spastic tetraparesis, Cerebral visual impairment, Wide nas... OMIM:619179
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Split hand, Oligohydramnios, Intrauterine growth retardation, S... ORPHA:2145
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Ataxia, Aganglionic megacolon, Anteverted nares, Abnorm... ORPHA:59315
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Chorioretinal coloboma ORPHA:163961
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Short stature, Cryptorchidism... ORPHA:261494
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Peters Plus Syndrome
Polyhydramnios, Bicuspid pulmonary valve, Abnormality of vision, Clinodactyly of the 5th finger, ... ORPHA:709
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, U... ORPHA:1435
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Long fingers, Ulnar deviation of finger, Hypertonia, Short nos... ORPHA:1895
Lamellar Ichthyosis
Short stature, Dehydration ORPHA:313
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Short stature, Broad nasal tip, Inability to walk, Wide nasal bridge, Shor... OMIM:614207
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Cerebral visual impairment, Postaxial hand polydactyly, Hypertonia, Shor... ORPHA:1389
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... ORPHA:1248
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Optic atrophy, Slender long bone, Sh... ORPHA:561
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Cryptorchidism, Growt... ORPHA:2083
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Tremor, Splenomegaly, Jaundice,... ORPHA:525731
Non-Distal Duplication 13Q
Arachnodactyly, Cryptorchidism, Postaxial hand polydactyly, Hernia, Short nose ORPHA:1702
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Short stature, 2-3 toe syndactyly, Coxa vara, Wide nasal bridge, Ra... OMIM:614701
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Polyhydramnios, Optic disc coloboma, Choanal stenosis, Atrial septal defect, Sh... ORPHA:1790
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... OMIM:223360
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Cerebral visual impairment, Microvesicular hepatic steatosis, Cerebral cor... OMIM:203700
Fetal Alcohol Syndrome
Short stature, Anteverted nares, Congenital diaphragmatic hernia, Atrial septal defect, Intrauter... ORPHA:1915
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Po... OMIM:257300
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Fetal Hydantoin Syndrome
Short stature, Cryptorchidism, Depressed nasal ridge, Hernia, Triphalangeal thumb, Intrauterine g... ORPHA:1912
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... OMIM:620327
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Wide nose, Ventricular septal defec... OMIM:619525
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Sple... OMIM:214500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Blindness, Ataxia, Short stature, Retinal telangiectasia, Metaphyseal s... OMIM:612199
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Flexion contracture, Myopia, Depressed nasal bridge, Short stature, Tape... OMIM:309590
19P13.13 Microdeletion Syndrome
Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Corpus callosum atr... ORPHA:357001
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short stature, Ataxia, Decreased response to growth hormone stimulation test, W... OMIM:601853
Trisomy 20P
Finger syndactyly, Inguinal hernia, Incoordination, Anteverted nares, Camptodactyly of finger, Pr... ORPHA:261318
Jacobsen Syndrome
Broad columella, Long hallux, Broad hallux phalanx, Finger syndactyly, Anteverted nares, Short st... ORPHA:2308
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Short stature, Portal hypertension, Decreased l... OMIM:613658
Netherton Syndrome
Short stature, Dehydration ORPHA:634
Trigonocephaly 1
Omphalocele, Short nose, Wide nasal bridge OMIM:190440
Deeah Syndrome
Hepatomegaly, Myopia, Overlapping fingers, Short stature, Decreased heart rate variability, Polyh... OMIM:619004
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
African Trypanosomiasis
Tremor, Choreoathetosis, Papilledema, Hepatomegaly, Abnormal EKG, Abnormal central motor function... ORPHA:3385
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right he... OMIM:616894
Chanarin-Dorfman Syndrome
Hepatomegaly, Ataxia, Myopathy, Hepatic steatosis OMIM:275630
Prolidase Deficiency
Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati... OMIM:170100
16P13.11 Microdeletion Syndrome
Anteverted nares, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Depresse... ORPHA:261236
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormality of temperature regulation, Abnormal pulmonary... ORPHA:667
Degcags Syndrome
Polyhydramnios, Prominent nose, Vocal cord paralysis, Atrial septal defect, Diaphragmatic eventra... OMIM:619488
Desmosterolosis
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Metatarsus adductus, Splen... ORPHA:35107
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... OMIM:618961
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tetraplegi... OMIM:618278
Oculodentodigital Dysplasia
Narrow nasal bridge, Ataxia, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Paraparesi... OMIM:164200
Von Hippel-Lindau Disease
Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocy... ORPHA:892
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Depressed nasal bridge, Anteverted nares, Abnormal heart morphology, Polydactyly,... ORPHA:314655
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Wide nasal bridge, Clinodactyly, Short nose OMIM:618577
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping shou... ORPHA:85293
Otopalatodigital Syndrome Type 2
Omphalocele, Bowing of the long bones, Abnormal heart valve morphology, Camptodactyly of finger, ... ORPHA:90652
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Ey... OMIM:234200
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Anosmi... OMIM:606693
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Opisthotonus, Ch... OMIM:269150
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... OMIM:300972
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Myopia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd f... OMIM:612394
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Retinal detachment, Myopia, Tricuspid regurgitation, Arachnodactyly, Scarri... OMIM:601776
Asparagine Synthetase Deficiency
Caudate atrophy, Blindness, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Cerebra... OMIM:615574
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Tapered finger, Obesity, Hypertonia, Short nose, Long hallux OMIM:619854
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Inguinal hernia, Short metacarpal, Bowed humerus, Tarsal... OMIM:272460
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis, Cerebral ... OMIM:201450
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypertonic dehydration, Hypernatremia, Unexplained fevers, Failure to thrive, Diab... OMIM:304800
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Constriction of peripheral visual field, Ataxia, Tremor, Babinski sign, Xerost... OMIM:618527
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Nephrogenic diabetes insipidus, Hypertonic dehydration, Hypernatremia, Unexplained... OMIM:125800
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Optic nerve dysplasia, Spastic paraplegia, Obesity, Cerebral atrophy, Hypermetrop... OMIM:617296
Schinzel-Giedion Syndrome
Vocal cord paralysis, Tibial bowing, Hypertonia, Choanal stenosis, Hepatoblastoma, Streak ovary, ... ORPHA:798
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Synost... ORPHA:1507
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, ... OMIM:300912
Aymé-Gripp Syndrome
Inguinal hernia, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Congenital diaphragmat... ORPHA:1272
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Spasticity, Joint contracture of the hand... OMIM:602398
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spi... ORPHA:2137
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Short sta... ORPHA:261211
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Fever, Tremor, Diplopia, Dysmetria, Gait ataxia, Hemiparesis, Transient unila... OMIM:602481
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Pontocerebellar Hypoplasia, Type 10
Tapered finger, Underdeveloped nasal alae, Cerebral visual impairment, Bulbous nose, Cryptorchidi... OMIM:615803
Nicolaides-Baraitser Syndrome
Short metatarsal, Prominent interphalangeal joints, Gait ataxia, Short phalanx of finger, Long to... OMIM:601358
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... OMIM:208000
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Prominent fing... OMIM:615873
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Polyhydra... ORPHA:2547
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Flexion contracture, Absence of subcutaneous fat, Telan... OMIM:601675
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Depressed nasal b... ORPHA:1812
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Short stature, Postaxial hand polydactyly, Hip dislocatio... OMIM:241800
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Neonat... OMIM:612289
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Sho... ORPHA:3258
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Decre... ORPHA:412
Robinow Syndrome
Syndactyly, Brachydactyly, Decreased serum testosterone concentration, Small for gestational age,... ORPHA:97360
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive... ORPHA:1225
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency, Myopathy, Failure to thrive, Hepatic steatosis ORPHA:977
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Short stature, Delayed pu... ORPHA:79259
Osteoglophonic Dysplasia
Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ... OMIM:166250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Polyhydramnios,... OMIM:617156
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Gait disturbance, Subvalvular aortic stenosis, Clinodacty... ORPHA:65286
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Tremor, Reduced visual acuity, Hyperhomocystinemia, Cy... OMIM:277400
Unilateral Polymicrogyria
Epistaxis, Involuntary movements, Spastic tetraplegia, Abnormal heart morphology, Hemiparesis, Po... ORPHA:268943
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Choanal atresia, Short ... OMIM:610536
Opsismodysplasia
Short metacarpal, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Edema, Rhizomelia, Sq... OMIM:258480
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Inguinal hernia, Short stature, Cryptorchidism, Small hand, Short palm, Clinod... ORPHA:1786
Toriello-Carey Syndrome
Aganglionic megacolon, Short stature, Postnatal growth retardation, Wide anterior fontanel, Crypt... ORPHA:3338
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportionate short-limb s... OMIM:618618
Teebi Hypertelorism Syndrome 2
Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Clinodactyly of the ... OMIM:619736
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Polyhydramnios, Dehydration, Clumsiness, Hypochloremia, ... ORPHA:89938
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Ataxia, Prominent nasal bridge, Short stature, Broad nasal tip... ORPHA:2754
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Opisthotonus, Acute hepatic steatosis, Lethargy, Failure to t... OMIM:210200
Monosomy 9Q22.3
Rhabdomyosarcoma, Large for gestational age, Cardiac fibroma, Polydactyly, Umbilical hernia, Shor... ORPHA:77301
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, S... OMIM:302950
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy, Ataxia, Tremor, Rhabdomyolysis, Myopathy, Hyperbilirubinemia ORPHA:713
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Tape... OMIM:613458
Macrocephaly/Autism Syndrome
Speech apraxia, Hepatomegaly, Depressed nasal bridge, Large for gestational age, Splenomegaly, Ob... OMIM:605309
Fanconi-Bickel Syndrome
Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Elevated circula... ORPHA:2088
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Le... OMIM:201100
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Sandal gap, Facial hypotonia, Broad nasal tip, Tremor, Long fingers... OMIM:617557
Lathosterolosis
Hepatomegaly, Toe syndactyly, Anteverted nares, Intrahepatic cholestasis, Postaxial hand polydact... ORPHA:46059
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial... OMIM:312870
Kanzaki Disease
Peripheral axonal neuropathy, Telangiectasia of the oral mucosa, Depressed nasal bridge, Lymphede... OMIM:609242
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Intraven... OMIM:616430
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Ventricular septal defect, Depressed nasal bridge, Short stature, Hypogonadot... OMIM:301030
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Facial palsy, Short nose OMIM:614744
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Short nose, Spina bifida occulta ORPHA:1514
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Axial muscle stiffness, ... ORPHA:240071
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Hypertonia, Clinodactyly of the 5th... ORPHA:199
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Mild short stature, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short stature, Materna... ORPHA:280200
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Preaxial hand polydactyly, Short nose, Short stature ORPHA:79113
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Visual loss, Dilated cardiomyopathy, Flexion contracture, Growth delay, A... ORPHA:79408
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hy... ORPHA:348
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Abnormal visual field test, Tremor, Elevated circulating thyroid-stimulati... ORPHA:91347
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tremor, Prominent U wa... ORPHA:466677
Tetrasomy 18P
Short nose, Syncope, Gait disturbance ORPHA:3307
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Meta... OMIM:300863
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ventricular septal defect, Anteverted nar... ORPHA:1934
Absent Eyebrows And Eyelashes With Mental Retardation
Progressive spastic quadriplegia, Short nose, Convex nasal ridge OMIM:200130
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Broad-based gait, Dystonia, Ventricular septal defect, Sandal gap, Optic ner... OMIM:620330
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G... OMIM:618877
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Peritonitis, Elevated circulating creatinine concentration, ... ORPHA:90038
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... ORPHA:276621
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Clinodactyly, Hypertonia, Atrial septal defect, Broad hallux, An... OMIM:301044
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cerebral visual impairment, Atrial septal defect, Absent gallbladder, Myopia, Arachnodactyly, Dep... ORPHA:500150
Robinow Syndrome, Autosomal Recessive 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Ant... OMIM:268310
Okamoto Syndrome
Omphalocele, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Underdeveloped ... ORPHA:2729
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Narrow nasal bridge, Myopia, Speech apraxia, Slender build, Left ventricular nonco... OMIM:300967
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic pubic bone, Sho... OMIM:614524
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal... OMIM:614749
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Appendicular spasticity, Tapered finger, Wide nasal bridge, Obesity, Apraxia, Oculomotor apraxia,... OMIM:620250
Poikiloderma With Neutropenia
Depressed nasal bridge, Short stature, Edema, Underdeveloped nasal alae, Elevated circulating cre... OMIM:604173
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... ORPHA:209902
Meier-Gorlin Syndrome 6
Severe short stature, Sandal gap, Small for gestational age, Anteverted nares, Depressed nasal br... OMIM:616835
Ctcf-Related Neurodevelopmental Disorder
Prominent fingertip pads, Inguinal hernia, Broad hallux phalanx, Small for gestational age, Sanda... ORPHA:363611
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Unexplained fevers, Hypothermia, Corneal scarring, Atypical scarring of skin, Growth d... ORPHA:642
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Primary Hyperoxaluria
Elevated hepatic transaminase, Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, He... ORPHA:416
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Fever, Short stature, Polyhydramnios, Nephrogenic diabetes insipidus, ... ORPHA:223
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Anteverted nares, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Long nose, De... OMIM:615866
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Cerebral cortical atrophy, Tetraparesis ORPHA:85277
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Polyhydramnios, Choanal atresia, Short stature, Bilater... OMIM:619859
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing,... OMIM:108720
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Short stature, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus... ORPHA:163966
Phosphoribosylpyrophosphate Synthetase Superactivity
Myopia, Peripheral axonal neuropathy, Depressed nasal bridge, Small for gestational age, Ataxia, ... OMIM:300661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... OMIM:614069
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Partial d... OMIM:616331
Dermotrichic Syndrome
Proportionate short stature, Depressed nasal bridge, Aganglionic megacolon, Short nose ORPHA:99688
Niemann-Pick Disease Type C
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,... ORPHA:646
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Wide nose, Enlarged ovaries, Skeletal muscle a... ORPHA:508
Tick-Borne Encephalitis
Elevated hepatic transaminase, Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial pa... ORPHA:297
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Palpebral edema, Polyhydramnios, Abnormal circulating calcium-phosphate regul... ORPHA:50810
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Hypouricemia, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Grow... OMIM:252160
Tetrasomy 12P
Short nose, Short stature, Anteverted nares, Cachexia ORPHA:884
Pallister-Hall Syndrome
Adrenal hypoplasia, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, At... ORPHA:672
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Conj... OMIM:606002
Renal Hypoplasia
Hypertension, Small for gestational age, Dehydration ORPHA:93101
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Decreased heart rate variability, Underde... OMIM:619005
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Hypercal... ORPHA:29072
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Pol... OMIM:200995
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Clino... OMIM:249620
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul... ORPHA:2557
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
Noonan Syndrome 3
Hypoplastic nasal bridge, Ventricular septal defect, Anteverted nares, Polyhydramnios, Short stat... OMIM:609942
Distal Renal Tubular Acidosis
Short stature, Paralysis, Dehydration, Growth delay, Hypokalemia, Failure to thrive ORPHA:18
Pmm2-Cdg
Multiple joint contractures, Lymphedema, Prominent nose, Elevated circulating thyroid-stimulating... ORPHA:79318
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Ventricular sept... OMIM:134780
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Hypouricemia, Bicarbonaturia, Dehydration, Weight loss, Growth delay, Decreased cir... ORPHA:3337
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... OMIM:613406
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Intellectual Developmental Disorder, Autosomal Dominant 68
Broad hallux, Cerebral visual impairment, Bulbous nose, 2-3 toe syndactyly, Hypermetropia, Joint ... OMIM:619934
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Polyhydramnios, Hernia, Short nose, Cerebral cortical atrophy ORPHA:1394
Sandifer Syndrome
Hematemesis, Torticollis, Abnormal posturing, Hiatus hernia ORPHA:71272
Omodysplasia 1
Short humerus, Ventricular septal defect, Increased fibular diameter, Depressed nasal bridge, Rhi... OMIM:258315
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Anteverted nares, Facial palsy, Short stature, Aplasia of the pectoralis... ORPHA:1358
Pterygium Colli, Isolated
Short nose OMIM:177990
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Rhizomelia, Cryptorchidism, Short palm, Short nose, Short ... ORPHA:93328
Brain Malformations With Or Without Urinary Tract Defects
Inguinal hernia, Failure to thrive, Anteverted nares, Short nose OMIM:613735
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Bartsocas-Papas Syndrome 1
Omphalocele, Syndactyly, Inguinal hernia, Short metacarpal, Hypoplastic scapulae, Absent thumb, A... OMIM:263650
Orofaciodigital Syndrome Type 4
Depressed nasal ridge, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the tibia, Genu varum,... ORPHA:2753
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Broad ... OMIM:617157
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Aplasia of the... ORPHA:364577
3-Methylglutaconic Aciduria Type 3
Ataxia, Choreoathetosis, Gait disturbance, Spastic paraparesis, Visual impairment ORPHA:67047
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Myopia, Ventricular septal defect, Anteverted nares, Short stature, Amblyopia, Decreased response... ORPHA:444077
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Angioedema, Chronic rhinitis, Failure to thrive OMIM:256500
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Anteverted nares, Bilobate gallbladder, Intrahepat... OMIM:607330
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the hand, Abnorm... OMIM:271665
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Short stature, Wide nasal bridge OMIM:612563
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, Short stature... OMIM:616723
Microvillus Inclusion Disease
Hypovolemia, Dehydration ORPHA:2290
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Short nose OMIM:611936
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Optic neuropathy, Sudden cardiac death, Hyperlipidemia, T... ORPHA:391665
Antley-Bixler Syndrome
Anteverted nares, Arachnodactyly, Camptodactyly of finger, Choanal atresia, Femoral bowing, Narro... ORPHA:83
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth d... OMIM:252150
Thyrotoxic Periodic Paralysis
Tremor, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractility, Respiratory paraly... ORPHA:79102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Depressed nasal bridge, Anteverted nares, Macroglossia, Short nose, Failure to thrive OMIM:242860
Waardenburg Syndrome Type 1
Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Abnormality of vision, Short... ORPHA:894
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism... ORPHA:1519
Raine Syndrome
Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Short stature, Choanal stenosi... OMIM:259775
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Palpebral edema, Bulbous nose, Growth delay, Macroglossia, Short nose ORPHA:261144
Distal Deletion 9P
Short nose, Wide nasal bridge, Hernia, Brachydactyly ORPHA:1642
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose OMIM:300143
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Hypogonadism, Genu valgum ORPHA:2983
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Decreased nerve conduction velocity, Tremor, Abnormal gallbladd... ORPHA:512
Ataxia-Telangiectasia
Conjunctival telangiectasia, Dystonia, Ataxia, Short stature, Diabetes mellitus, Female hypogonad... OMIM:208900
Listeriosis
Fever, Pericarditis, Liver abscess, Ataxia, Tremor, Myocarditis, Jaundice, Peritonitis, Congestiv... ORPHA:533
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Cerebral atrophy, Fin... OMIM:601353
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... ORPHA:93357
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Clinodactyly of the 5th finger, Atrial septal defect, Anteverted nares, Short stature,... OMIM:619522
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Abnormal metacarpal morpholog... ORPHA:1295
Malan Syndrome
Long fingers, Short nose, Hypermetropia, Coxa valga OMIM:614753
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, ... OMIM:277450
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... OMIM:101600
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Distal lower limb amyotrophy, Small for gestational age, Sandal gap... ORPHA:506358
Trisomy 12P
Clinodactyly of the 5th finger, Short nose, Short stature, Wide nasal bridge ORPHA:1699
Autosomal Dominant Robinow Syndrome
Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Femoral hernia, Antever... ORPHA:3107
Cerebrooculonasal Syndrome
Anteverted nares, Optic nerve hypoplasia, Proboscis, Postaxial polydactyly, Prominent nasal bridg... OMIM:605627
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Short stature, Situs inversus totalis, Prominent crus o... ORPHA:1449
Orofaciodigital Syndrome Type 1
Tremor, Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Abnormal dental enamel morphol... ORPHA:2750
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Anteverted nares, Depressed nasal bridge, Rhizomelia, Flat capital femoral epiphys... OMIM:271510
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Polyhydramnios, Tapered finger, Intraventricular hemorrhage, Wide nasal br... OMIM:613603
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Depressed nasal bridge, Short stature, Sho... OMIM:268400
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhyd... OMIM:601803
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Robinow Syndrome, Autosomal Dominant 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Anteverted nares, ... OMIM:180700
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Au-Kline Syndrome
Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga, Prominent nasal bridge, Und... OMIM:616580
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Absent thumb, Aplasia/Hypoplasia of... ORPHA:1234
Ayme-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Short stature, Tapered finger, Wide nasal bridge, Cerebral ... OMIM:601088
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Prominent nose, Tremor, Prominent fingertip pads, Clinodactyly of the 5th ... OMIM:612474
Nablus Mask-Like Facial Syndrome
Sandal gap, Anteverted nares, Short hallux, Tapered finger, Depressed nasal bridge, Cryptorchidis... OMIM:608156
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Diplopia... OMIM:601104
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Inguinal hernia, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Pr... OMIM:227330
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Proximal placement of ... ORPHA:261112
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural... ORPHA:67036
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Thick ... OMIM:303600
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge, Short stature ORPHA:2835
Wiedemann-Steiner Syndrome
Short stature, Rhizomelia, Decreased response to growth hormone stimulation test, Tapered finger,... ORPHA:319182
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge, Aplastic cl... ORPHA:50945
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Anteverted nares, Polyhydramnios, Growth delay, Short palm, Short nose, Fa... ORPHA:3339
Toluene Embryopathy
Cryptorchidism, Short nose, Short stature, Tapered finger ORPHA:1920
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Inguinal hernia, Blindness, Broad hallux, Overlapping toe, Sandal gap, Antev... OMIM:618332
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Cryptorchidism, Abnormal tibia morp... ORPHA:2879
C Syndrome
Omphalocele, Toe syndactyly, Failure to thrive in infancy, Anteverted nares, Polyhydramnios, Cong... ORPHA:1308
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiffness, Brad... OMIM:615530
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Holoprosencephaly 7
Omphalocele, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal t... OMIM:610828
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Severe postnatal growth retardation, Short nose OMIM:266810
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly ORPHA:1129
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Aplasia of the nasal bone, Streak ovary, Cryptorchidism, Hypermetropia, ... OMIM:618820
Sotos Syndrome
Tremor, Flexion contracture, Pedal edema, Atrial septal defect, Hypothyroidism, Myopia, Cryptorch... ORPHA:821
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Abnormal morphology of ulna, Splenomegaly, Wide nasal bridge, Macr... ORPHA:93
White-Kernohan Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Hip dysplasia, Shor... OMIM:619426
Penile Agenesis
Depressed nasal bridge, Ventricular septal defect, Maternal diabetes, Atrophy of the spinal cord,... ORPHA:49
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Short statur... ORPHA:1974
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Shor... OMIM:229400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Fever, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose, Heat intolerance OMIM:305100
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Pulmonary arterial hypertensi... ORPHA:2282
1P21.3 Microdeletion Syndrome
Myopia, Broad nasal tip, Obesity, Abnormality of vision, Short nose ORPHA:293948
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris OMIM:122880

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.

There is no histopathology data for Opa3

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 Opa3.

No publications found that use IMPC mice or data for Opa3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Opa3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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