Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
iduronidase, alpha-L
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Idua 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 predicted to be associated to Idua by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteoporosis
Osteoporosis OMIM:166710
Mucopolysaccharidosis Type 4
Coxa valga, Short neck, Abnormal rib morphology, Abnormal metaphysis morphology, Reduced bone min... ORPHA:582
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... ORPHA:280397
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Chondroitin sulfate excretion in urine, Coxa v... OMIM:253000
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Kniest Dysplasia
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Delayed patellar ossif... ORPHA:485
Mucolipidosis Ii Alpha/Beta
Hip subluxation, Cerebral cortical atrophy, Coxa valga, Atlantoaxial dislocation, Flared iliac wi... OMIM:252500
Mucopolysaccharidosis, Type Vii
Metatarsus adductus, Hirsutism, Short neck, Hepatomegaly, Coarse hair, Narrow greater sciatic not... OMIM:253220
Cartilage-Hair Hypoplasia
Brachycephaly, Convex nasal ridge, Wide nasal bridge, Heart block, Abnormal distal phalanx morpho... ORPHA:175
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Trimethylaminuria, Emotional lability, Low self esteem, Depression,... ORPHA:468726
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hurler Syndrome
Coxa valga, Wide nasal bridge, Flared iliac wing, Hepatosplenomegaly, Hypoplasia of the femoral h... OMIM:607014
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Chondroitin sulfate excretion in urine, Coxa v... OMIM:253010
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Elbow flexion contracture, Hypoplastic ... OMIM:252940
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Hurler Syndrome
Camptodactyly of finger, Wide nasal bridge, Narrow pelvis bone, Angina pectoris, Short neck, Hepa... ORPHA:93473
Chondrodysplasia Calcificans Metaphysealis
Metaphyseal dysplasia, Mucopolysacchariduria, Metaphyseal chondrodysplasia OMIM:215050
Uruguay Faciocardiomusculoskeletal Syndrome
Retrognathia, Ventricular hypertrophy, Kyphosis, Joint contracture of the hand, Camptodactyly of ... OMIM:300280
Huntington Disease-Like 2
Inertia, Weight loss, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical... OMIM:606438
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Mucopolysaccharidosis Type 1
Enlarged thorax, Hypertrophic cardiomyopathy, Abnormal metaphysis morphology, Thick nasal alae, A... ORPHA:579
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Sinus tachycardia, Flared iliac wing, Anterior wedging of L2, Hirsutism, ... OMIM:253200
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... OMIM:619598
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Short stature, Synophrys, Radioulnar synostosis, Cli... ORPHA:3268
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macrotia, Mandibular prognathia, Inability to walk, Contractures of the large joint... ORPHA:324410
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Oculoskeletodental Syndrome
Abnormal sternum morphology, Thoracic hypoplasia, Short femoral neck, Wide nasal bridge, Short st... OMIM:618440
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Urinary urgency, Dementia, Depression, Anxiety, Dystonia, Bradykinesia OMIM:605909
Mucopolysaccharidosis, Type X
Hyperlordosis, Genu valgum, Wide nasal bridge, Broad clavicles, Hip dysplasia, Dermatan sulfate e... OMIM:619698
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Thick nasal alae, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies... ORPHA:583
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Dolichocephaly, Asymmetric septal hyper... OMIM:252930
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Weill-Marchesani Syndrome 1
Brachycephaly, Thin bony cortex, Broad phalanges of the hand, Short stature, Broad palm, Spinal c... OMIM:277600
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Kypho... ORPHA:254346
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Camptodactyly of finger, Kyphosis, Short stature, Dermatan sulfa... OMIM:607015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber atrophy, Optic atrophy, Truncal ataxia, Steppage gait, Bradykinesia, Facial palsy, G... OMIM:258450
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxiety, Memo... ORPHA:401901
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Tip-toe gait, Genera... OMIM:612954
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Wide nasal bridge, Short stature, Clinodactyly, Macrocephaly, Abnormal vertebral mor... ORPHA:166024
Mucopolysaccharidosis, Type Ii
Splenomegaly, Scaphocephaly, Kyphosis, Short stature, Dermatan sulfate excretion in urine, Macroc... OMIM:309900
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... ORPHA:2485
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... OMIM:147891
Weill-Marchesani Syndrome 2
Brachycephaly, Thin bony cortex, Elbow flexion contracture, Proportionate short stature, Flexion ... OMIM:608328
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... ORPHA:93323
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca... OMIM:252900
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Scl... ORPHA:564003
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Metatropic Dysplasia
Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notch, Disproportionate s... OMIM:156530
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia, Left ventricular hypertrophy, Ce... OMIM:614654
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Chorea, Benign Hereditary
Gait disturbance, Dementia, Anxiety OMIM:118700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Hypothermia, Left ventricul... OMIM:616501
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... ORPHA:166119
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho... ORPHA:40
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Persistent fetal circulation, High palate, Long philtrum, High, narrow ... OMIM:612863
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca... OMIM:252920
Anauxetic Dysplasia 2
Coxa valga, Midface retrusion, Hypoplastic iliac body, Hypoplasia of the femoral head, Nail dyspl... OMIM:617396
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Multiple Sulfatase Deficiency
Short stature, Ataxia, Hypoplastic vertebral bodies, Broad hallux, Broad thumb, Mucopolysaccharid... OMIM:272200
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... ORPHA:3329
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Optic atrophy, Abnormal EKG, Progressive gait ataxia, Generalized amyotroph... ORPHA:1177
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Gm1 Gangliosidosis Type 1
Flattened femoral head, Flared iliac wing, Hypoplastic vertebral bodies, Hepatosplenomegaly, Hirs... ORPHA:79255
Mucopolysaccharidosis Type 3
Synophrys, Adenoiditis, Hirsutism, Hepatomegaly, Coarse hair, Abnormal rib morphology, Thick nasa... ORPHA:581
Cardiac-Valvular Ehlers-Danlos Syndrome
Thoracolumbar scoliosis, Aortic root aneurysm, Pulmonary insufficiency, High palate, Mitral valve... ORPHA:230851
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Multiple Sulfatase Deficiency
Short stature, Coarse hair, Macrocephaly, Depressed nasal bridge, Broad thumb, Mucopolysaccharidu... ORPHA:585
17Q21.31 Microduplication Syndrome
Toe syndactyly, Synophrys, Clinodactyly of the 5th finger, Short nose, Delayed puberty, Sandal ga... ORPHA:217340
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Codas Syndrome
Short phalanx of finger, Genu valgum, Lumbar scoliosis, Short metacarpal, Absent epiphyses, Short... OMIM:600373
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Wide nasal bridge, Short stature... ORPHA:3207
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Acrocephalopolydactyly
Oxycephaly, Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Shor... ORPHA:221054
Nathalie Syndrome
Skeletal muscle atrophy, Hearing impairment, Abnormal EKG OMIM:255990
Desbuquois Syndrome
Camptodactyly of finger, Coxa valga, Patellar dislocation, Elbow dislocation, Short neck, Abnorma... ORPHA:1425
Familial Aortic Dissection
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Spondylolisthesis, Short neck, Aortic valve stenosis OMIM:607016
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Tapered finger, Kyphosis, Hyp... OMIM:313420
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Irregular capital femoral epiphys... OMIM:609052
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Monosomy 18Q
Bilateral conductive hearing impairment, Secundum atrial septal defect, Choreoathetosis, Left aor... ORPHA:1600
Mueller-Weiss Syndrome
Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, S... ORPHA:566943
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Camptodactyly, Mitral re... OMIM:615539
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Short neck, Disproportionate... OMIM:613330
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Contractural Arachnodactyly, Congenital
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Congenital kyp... OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Kyphosis, Short stature, Hip dislocation, Depressed nasal bridge, Hirsutism, Hypertel... OMIM:300434
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
2-3 toe syndactyly, Short 5th finger, Rocker bottom foot, Choanal atresia, Overhanging nasal tip,... ORPHA:163979
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depression, ... OMIM:604326
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Eczema, Atrial... OMIM:615355
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... OMIM:271530
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Short ... ORPHA:163649
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Enlarged thorax, Hepatitis, Epiphyseal stippling, Metatarsu... ORPHA:584
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Knee flexion contracture, Preaxial hand polydactyly, Short stature, Widow's peak, Pear-shaped nos... OMIM:606242
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short neck, ... ORPHA:505248
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Partial atrioventricular canal defect, Ventricular septal defect, Inability... OMIM:620066
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Renal hypoplasia/aplasia, Hip dysplasia, Preaxial foo... ORPHA:1988
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Mandibular prognathia, Kyphosis, Mitral valve prolapse, Aortic regurgitatio... OMIM:609008
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Mitral valve prolapse, Failure of eruption of permanent teeth, Mit... ORPHA:3238
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the wrist, Abnormal rib morphology, Abnormal eyebrow morphology, A... ORPHA:2319
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Pericardial effusion, Gingival overgrowth, Persistent feta... ORPHA:363705
Myopathy, Centronuclear, 5
Retrognathia, High palate, Centrally nucleated skeletal muscle fibers, Hip contracture, Micrognat... OMIM:615959
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardia, Hypertrophic cardiomyopa... OMIM:255160
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation, Scoliosis, Abnormal heart valve ... ORPHA:98892
Diamond-Blackfan Anemia 6
Retrognathia, Ventricular hypertrophy, Cleft upper lip, Patent ductus arteriosus, Ventricular sep... OMIM:612561
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Zimmermann-Laband Syndrome 3
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Long thumb, Absent distal phal... OMIM:618658
Arterial Tortuosity Syndrome
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Macrotia, High palate, Ischemic... OMIM:208050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Distal femoral bowi... ORPHA:457395
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Cognitive impairment, Inability to wal... ORPHA:206559
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Midface retrusion, Elbow dislocation, Hy... ORPHA:628
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Aortic regurgitation, Short neck, Scoliosis, Aortic valve stenosis OMIM:252605
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... ORPHA:88630
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Cednik Syndrome
Depressed nasal ridge, Short stature, Nephrotic syndrome, Dolichocephaly, Congestive heart failur... ORPHA:66631
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Polyvalvular Heart Disease Syndrome
High palate, Low-set ears, Micrognathia, Mitral valve prolapse, Abnormal heart valve morphology, ... ORPHA:228410
Systemic Lupus Erythematosus 17
Leukopenia, Oral ulcer, Malar rash, Myelitis, Raynaud phenomenon, Lymphopenia, Autoimmune thrombo... OMIM:301080
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... ORPHA:216694
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... ORPHA:174
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Hepatic failure, Short stature, Congestive heart failure, Shield chest, ... ORPHA:261519
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... OMIM:618961
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Anxiety, Apathy, Tremor, Dystonia, Depression, Mental deterioration, Memory impairment, Br... ORPHA:240085
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar vermis atrophy, Optic atrophy, Micrognathia, Camptodactyly, Hepatosplenomegaly, Hepato... OMIM:614866
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... OMIM:620067
Pierpont Syndrome
Brachycephaly, Chiari malformation, Midface retrusion, Short neck, Deep palmar crease, Short palm... OMIM:602342
Noonan Syndrome 14
Long philtrum, Kyphosis, Wide mouth, Mitral valve prolapse, Lymphopenia, Aortic regurgitation, Hy... OMIM:619745
Chondrodysplasia With Joint Dislocations, Gpapp Type
Patellar dislocation, Wide nasal bridge, Limited elbow extension, Knee dislocation, Radial head s... OMIM:614078
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Conotruncal defect, Subcortical cerebral atrophy, Abnormal cardiac sep... ORPHA:96147
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Wide nasal bridge, Narrow chest, Frontal bossing, Platybasia, Cloverleaf skull, Hyper... ORPHA:93267
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Sensorineural hearing impairment, Heart m... ORPHA:2326
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration OMIM:619191
Spinocerebellar Ataxia 48
Gait ataxia, Urinary incontinence, Anxiety, Cachexia, Ataxia, Dysmetria, Tremor, Depression, Ment... OMIM:618093
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, D... ORPHA:437572
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Bicuspid aortic valve, Arthr... OMIM:619825
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
16Q24.3 Microdeletion Syndrome
High palate, Ventricular septal defect, Kyphosis, Long philtrum, Wide mouth, Micrognathia, Dilate... ORPHA:261250
Cranioectodermal Dysplasia
Finger syndactyly, Rhizomelia, Narrow chest, Clinodactyly of the 5th finger, Prominent occiput, D... ORPHA:1515
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Pulmonary insufficiency, Narrow palate, Long philtrum, Thick lower lip ... ORPHA:555877
Craniofrontonasal Dysplasia
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Abnor... ORPHA:1520
Mitral Valve Prolapse 1
High palate, Mitral valve prolapse, Mitral regurgitation, Reversed usual vertebral column curves,... OMIM:157700
Mucolipidosis Type Ii
Conductive hearing impairment, Inability to walk, Hepatosplenomegaly, Telangiectases of the cheek... ORPHA:576
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... OMIM:212140
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Tapered finger, Kyphosis, Short stature, Pectus excavatum, Frontal bossing, Hypertelor... ORPHA:276630
Fabry Disease
Achalasia, Optic atrophy, Angina pectoris, Hypertrophic cardiomyopathy, Hearing impairment, Trans... ORPHA:324
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Round ear, Ventricular septal defect, Micrognathia, Atrial septal de... OMIM:614114
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Coxa vara, Short femoral neck, Medial widening of clavicles, R... OMIM:183849
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Asplenia, Chiari malformation, Micrognathia, Butterfly vertebrae, ... OMIM:265380
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Acromicric Dysplasia
Abnormal eyebrow morphology, Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Lon... ORPHA:969
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... ORPHA:412066
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Toe syndactyly, Short neck, Postaxial hand polydactyly, Abnormal hair morpholo... ORPHA:3082
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Ventricular hypertrophy, Flexion contracture, Delayed eruption of teeth,... OMIM:143095
Camurati-Engelmann Disease, Type 2
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Mitral valve prolapse, Mitral... OMIM:606631
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Short nose, Low posterior hairline, Cubitus valgus, S... OMIM:300577
Craniodiaphyseal Dysplasia
Wide nasal bridge, Short stature, Macrocephaly, Craniofacial hyperostosis, Frontal bossing, Depre... ORPHA:1513
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Frontal hirsutism, Cutaneous syndactyly, Single tra... OMIM:272440
Noonan Syndrome 13
High palate, Long philtrum, Wide mouth, Widely spaced teeth, Micrognathia, Mitral valve prolapse,... OMIM:619087
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Short stature, Short nose, Depressed nasal bridge, Progressive microcephaly, H... ORPHA:438178
Congenital Hypothyroidism
Abnormal pericardium morphology, Hypotension, Optic atrophy, Hypothermia, Hypertension, Macroglos... ORPHA:442
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Limb hypertonia, EEG with burst suppression, Hypothermia, Micrognathia, Abnormal a... OMIM:614498
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Midface retrusion, Short neck, Flattened epiphysis, Thick eyebrow, Peg-like ce... OMIM:300232
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal def... OMIM:301039
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... ORPHA:2635
Temtamy Syndrome
Long philtrum, Micrognathia, Aortic aneurysm, Lop ear, Dental crowding, Aortic regurgitation, Low... OMIM:218340
Cutis Laxa, Autosomal Recessive, Type Iie
Convex nasal ridge, Wide nasal bridge, Prominent nasolabial fold, Hip dislocation, Pectus excavat... OMIM:619451
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Abnormal long bone morphology, Urinary bladder sphincter dysfunction, Short statur... ORPHA:52430
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Narcolepsy Type 1
Obesity, Transient global amnesia ORPHA:2073
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Dilated cardiomyopathy, Aortic r... ORPHA:401923
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Primary microcephaly, Synophrys, Pectus excavatum, Short neck, Slender finger, Proportionate shor... ORPHA:391408
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... ORPHA:263297
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Convex nasal ridge, Pulmonary insufficiency, Thoracic hy... OMIM:166210
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Optic atrophy, Aortic regurgitation, Mitral regurgitation, Heari... OMIM:614651
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Multiple Metaphyseal Dysplasia
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho... ORPHA:93430
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Dyggve-Melchior-Clausen Disease
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... OMIM:223800
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Infantile sensorineural hearing impairment, Mitral valve prolapse, Campt... ORPHA:2848
Ruvalcaba Syndrome
Convex nasal ridge, Synostosis of carpal bones, Short nose, Delayed puberty, Proximal placement o... ORPHA:3121
Aarskog-Scott Syndrome
Camptodactyly of finger, High anterior hairline, Abnormality of the cervical spine, Short foot, F... ORPHA:915
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Inflammatory abnormality of the skin, Pericardia... ORPHA:26793
Turnpenny-Fry Syndrome
Conductive hearing impairment, Microdontia, Hypoplasia of the primary teeth, Lumbar hyperlordosis... OMIM:618371
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Micrognathia, Hypsarrhythmia, Cardiomyopathy OMIM:600721
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Nicolaides-Baraitser Syndrome
Abnormal hair pattern, Short palm, Sparse hair, Thick nasal alae, Alopecia, Clubbing of toes, Mic... ORPHA:3051
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Optic nerve hypoplasia, Short neck, Smooth philtrum, Peripheral pulmonary artery ste... OMIM:617506
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, High palate, Deep philtrum, Decreased circulating antibody level, Hepatosp... OMIM:619750
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Myeloid leukemia, Mandibular prognathia, Chiari m... ORPHA:404443
Sinoatrial Node Dysfunction And Deafness
Syncope, Abnormal QRS complex, Increased heart rate variability, Bradycardia, Hearing impairment OMIM:614896
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Incisor macrodontia, Patent ductus arteriosus, Long philtrum, Atrial septal defect... OMIM:615502
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Everted upper lip vermilion, Deep philtrum, Atrial septal defect, Opti... OMIM:615879
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Joint dislocation, Coxa valga, Depressed nasal ridge, Wide nasal bridge, C... ORPHA:1240
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... ORPHA:2299
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation OMIM:225320
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Kyphosis, Synophrys, Macrocephaly, Gait disturbance, Short nose, Scoliosis, Low p... ORPHA:2429
2P15P16.1 Microdeletion Syndrome
Retrognathia, Camptodactyly of finger, High palate, Long philtrum, Kyphosis, Optic atrophy, EEG a... ORPHA:261349
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Joint ... OMIM:611962
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Retrognathia, Right bundle branch block, Tricuspid regurgitation, Mandibular prognathia, Wide mou... OMIM:619576
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Coxa valga, Abnormality of the fifth metatarsal bone,... OMIM:311300
Non-Distal Trisomy 10Q
Brachycephaly, Convex nasal ridge, Short stature, Pectus excavatum, Short nose, Frontal bossing, ... ORPHA:1695
Beh├žet Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Splenomegaly, End... ORPHA:117
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Sandhoff Disease
Kyphosis, Macrocephaly, Congestive heart failure, Ataxia, Hepatomegaly, Splenomegaly ORPHA:796
Lamb-Shaffer Syndrome
Vertebral clefting, Wide nasal bridge, Long hallux, Clinodactyly, Frontal bossing, Overlapping to... OMIM:616803
Leigh Syndrome With Cardiomyopathy
Global brain atrophy, Anemia, Basal ganglia gliosis, Optic atrophy, Dilated cardiomyopathy, Conge... ORPHA:70474
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Scapular winging, Gait ataxia, Increased variabil... OMIM:607459
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Kyphosis, Short stature, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Mi... OMIM:616756
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic disc pallor, Macroglossia, Pancyto... ORPHA:309288
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Tapered finger, Wide nasal bridge, Thin eyebrow, Macrocephaly, Clinodacty... OMIM:618147
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Cerebral... OMIM:618453
Noonan Syndrome 10
Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p... OMIM:616564
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Increased bone m... ORPHA:90650
Coccidioidomycosis
Abnormality of the liver, Abnormal long bone morphology, Cerebral ischemia, Renal insufficiency, ... ORPHA:228123
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Aspiration pneumonia, Left ventricular hypertrophy, Dilated cardiomyopathy,... OMIM:619167
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Inability to walk, Wide nasal bridge, Synophrys, Flared iliac wing, Pectus... OMIM:617303
Ring Chromosome 8 Syndrome
Frontal bossing, Short nose, Abnormality of the ureter, Anteverted nares, Low posterior hairline,... ORPHA:1450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Wide nasal bridge, Short ribs, Micrognathia, Short femur, ... OMIM:616897
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect, EEG abnormality OMIM:615476
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Cln3 Disease
Memory impairment, Shuffling gait, Optic atrophy, T-wave inversion, Left ventricular hypertrophy,... ORPHA:228346
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Depressed nasal bridge, Hirsutism, Congenital bilateral hip dislocation,... ORPHA:85288
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... ORPHA:99106
Congenital Disorder Of Deglycosylation 1
Brachycephaly, Chondroitin sulfate excretion in urine, Hepatic fibrosis, 3-Methylglutaconic acidu... OMIM:615273
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Hypoplastic fingernail, Short neck... OMIM:228520
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hip subluxation, Short phalanx of finger, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... ORPHA:1880
Chromosome 18Q Deletion Syndrome
Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Bifid uvula, Shor... OMIM:601808
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Wide nasal bridge, Ulnar deviation of the wrist, Clinodactyly, Long... OMIM:618577
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Delayed cranial suture closure, Plagiocephaly, Inability to walk, Wide nasal bridge, Overlapping ... OMIM:619383
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... OMIM:612541
Mulibrey Nanism
Wide nose, Nephroblastoma, Wide nasal bridge, Short stature, Dolichocephaly, Congestive heart fai... OMIM:253250
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Hydroxyprolinuria, Femoral bowing, Short femur, Osteoscler... OMIM:602080
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Fair hair, Abnormal thorax morphology, Congestive h... OMIM:269920
Congenital Myopathy 8
Increased variability in muscle fiber diameter, High palate, Muscle fiber atrophy, Internally nuc... OMIM:618654
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... ORPHA:440354
Intellectual Developmental Disorder, Autosomal Recessive 5
Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Short stature, Prominent nasal brid... OMIM:611091
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Mandibular prognathia, Sensorineural hearing impairment, Ventricular septal... ORPHA:488632
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypothermia, Hyper... OMIM:618775
Meningococcal Meningitis
Hypotension, Papilledema, Hypothermia, Skin rash, Stroke, Shock, Fever, Infectious encephalitis, ... ORPHA:33475
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Pectus carinatum, Turricephaly, Chiari malformation, Toe syndactyly, Renal agenesi... ORPHA:171839
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Gait disturban... ORPHA:98912
Hamamy Syndrome
Dental malocclusion, Enamel hypoplasia, Sensorineural hearing impairment, High palate, Long philt... OMIM:611174
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Abnormality of the elbow... ORPHA:3098
Opsismodysplasia
Tapered finger, Hypoplastic pubic bone, Severe short stature, Macrocephaly, Hypoplastic vertebral... ORPHA:2746
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Midface re... OMIM:269250
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... ORPHA:750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Rhizomelia,... OMIM:300863
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria, Protruding to... ORPHA:93400
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Hypothermia, Macroglossia, Lethargy, Bradycardia ORPHA:95716
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Fusion of middle ear ossicles, Conductive hearing impairment, Ventricular s... OMIM:157800
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... OMIM:617258
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Congestive ... OMIM:619751
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Synophrys, Midface retrusi... ORPHA:1327
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Micrognathia, Abnormal optic disc morphology, ... ORPHA:508498
Spontaneous Periodic Hypothermia
Hypothermia, Skin rash, Gait disturbance, Ataxia, Arrhythmia ORPHA:29822
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Kniest Dysplasia
Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pectus excavatum, Short neck, Abno... OMIM:156550
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing of the long bones OMIM:168400
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Leth... ORPHA:1329
Loeys-Dietz Syndrome 5
Cleft soft palate, Bifid uvula, Ascending aortic dissection, Smooth philtrum, Scapular winging, C... OMIM:615582
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment, Micropenis OMIM:615983
Winchester Syndrome
Kyphosis, Arthropathy, Generalized osteoporosis, Hirsutism, Broad metacarpals, Carpal osteolysis,... OMIM:277950
Cutis Laxa, Autosomal Recessive, Type Iic
Knee flexion contracture, Right bundle branch block, High palate, Long philtrum, Mitral valve pro... OMIM:617402
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Premature osteoarthri... ORPHA:93284
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Sparse lateral eyebrow, Turricephaly... OMIM:601224
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the el... ORPHA:2701
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Neuronal loss in cent... OMIM:602613
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Short metatarsal, Advanced ossification of carpal bones, Short metacarpa... OMIM:614613
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Large for gestational age ORPHA:356996
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Conductive hearing impairment, Left ventricular diastolic dysfunction, D... ORPHA:740
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Chiari malformation, Flat capital femoral epiphysis, Metaphyseal striations, Midface retrusion, L... OMIM:271510
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... OMIM:222600
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Severe short stature,... OMIM:618724
Gm1-Gangliosidosis, Type I
Splenomegaly, Thickened ribs, Depressed nasal ridge, Kyphosis, Congestive heart failure, Dilated ... OMIM:230500
Even-Plus Syndrome
Vertebral clefting, Brachycephaly, Vesicoureteral reflux, Depressed nasal ridge, Recurrent urinar... OMIM:616854
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Dental malocclusion, Foot joint contracture, Ascending tubular aorta aneurysm, V... ORPHA:444072
Shprintzen-Goldberg Syndrome
Retrognathia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Cond... ORPHA:2462
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Verheij Syndrome
Vertebral fusion, Short 5th finger, Wide nasal bridge, Short stature, Clinodactyly, Hip dislocati... OMIM:615583
Dystonia 12
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Hyperlordosis, Sensorineural hearing impairment, Truncus arteriosus, Ven... ORPHA:261330
Tetrasomy 5P
Pulmonary arterial hypertension, Wide anterior fontanel, Wide nasal bridge, Heart murmur, Cerebel... ORPHA:3309
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Hyperlordosis, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf mu... OMIM:310200
Joubert Syndrome 37
Wide nose, Hydronephrosis, Deeply set eye, Wide nasal bridge, Short stature, Cerebellar vermis hy... OMIM:619185
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Martsolf Syndrome 1
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Cardiac arrest, Metatarsus ad... OMIM:212720
Smith-Mccort Dysplasia 1
Short phalanx of finger, Hypoplastic acetabulae, Beaking of vertebral bodies, Disproportionate sh... OMIM:607326
Oculodentodigital Dysplasia
Camptodactyly of finger, Toe syndactyly, Abnormality of the nail, Broad columella, Short hallux, ... ORPHA:2710
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Iliac crest serration, Wide nose, Metaphyseal cupping, Bell-shap... OMIM:613320
Spondylometaphyseal Dysplasia, Kozlowski Type
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, Ir... OMIM:184252
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Right bundle branch block, Tip-toe gait, Reduced left ventricular ejection fractio... ORPHA:268
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Tip-toe gait, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left... ORPHA:746
Neonatal Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Heart murmur, Crumpl... ORPHA:284979
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Finger syndactyly, Short stature, Long eyelashes, Short nose, Spina bifida occulta... ORPHA:1514
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Hip dislocation, Abnormal toenail morphology, Sparse hair, Alopecia, Promin... ORPHA:1005
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Abnormality of the liver, Renal insufficiency, Short s... ORPHA:474
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Kyphosis, Vascular ring, Atrial septal defec... OMIM:603387
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep... OMIM:618652
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Tapered finger, Plagiocephaly, Midface retrusion, Prominent metopic ridge, Sparse ... OMIM:619721
Monosomy 5P
Finger syndactyly, Wide nasal bridge, Small hand, Short stature, Hypertelorism, Short neck, Scoli... ORPHA:281
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Midface retrusion, Elbow disloc... OMIM:108720
Enthesitis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Oligoarthritis, Back pain, Dilatation of the ventricular cavity, Abnormalit... ORPHA:85438
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Kyphosis, Short stature, Delayed ossification of carpal bones, Brachydactyly,... OMIM:618392
Idiopathic Congenital Hypothyroidism
Hypothermia, Lethargy, Bradycardia, Macroglossia ORPHA:95717
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Prominent nose, Kyphosis, Intrauterine growth retardation, Brachyd... OMIM:234250
Acrodysostosis
Brachycephaly, Wide nasal bridge, Epiphyseal stippling, Midface retrusion, Abnormality of the nai... ORPHA:950
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Limb hypertonia, Aganglionic megacolon, Oligodontia, Short philtrum, A... OMIM:609460
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Inability to walk, Short neck, Difficulty walking, Limited elbow extensio... ORPHA:239
Distal Monosomy 10Q
Brachycephaly, Tapered finger, Wide nasal bridge, Hip dislocation, Pectus excavatum, Spina bifida... ORPHA:96148
Congenital Enterovirus Infection
Hypotension, Leukopenia, Anemia, Infectious encephalitis, Neutropenia, Abnormal macrophage morpho... ORPHA:292
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Mu... ORPHA:1052
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... OMIM:618728
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... ORPHA:210110
Cardiocranial Syndrome, Pfeiffer Type
Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Cutaneous syndactyly o... ORPHA:2872
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... ORPHA:168549
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... ORPHA:500
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Midface retrusion, Sh... OMIM:250215
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Short toe, Tapered finger, Deeply set eye, Kyphosis, Short st... OMIM:301900
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Midface retrusion, Short neck, Lacunar halos around chondrocytes, Talipes eq... OMIM:256050
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Convex nasal ridge, Finger syndactyly, Turricephaly, Short stature, Abnormality of... ORPHA:2145
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Arthropathy, Arthritis, Bone cyst, Congestive heart failure, ... ORPHA:85446
Spinocerebellar Ataxia-Dysmorphism Syndrome
Aplasia/Hypoplasia of the cerebellum, Short stature, Slender long bone, Macrocephaly, Dolichoceph... ORPHA:1185
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Hypothermia, Subdural hemorrhage, Smooth philtrum, Thrombocytopenia, Lethargy, Pul... ORPHA:79282
Fucosidosis
Anterior beaking of lumbar vertebrae, Brachycephaly, Kyphosis, Abnormality of the gallbladder, Ab... ORPHA:349
Opsismodysplasia
Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short pa... OMIM:258480
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Hypothermia, Abnormal auditory evoked potentials, Abnormal autonomic nervous... ORPHA:99027
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Optic atrophy, Cerebellar hypoplasia, Hypothermia, Hypertrophic... OMIM:618329
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Thoracic kyphosis, Elbow flexion contracture, Abnormality of the shoulder gird... ORPHA:206546
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... ORPHA:99105
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Cerebellar vermis atrophy, Deeply set eye, Inability to walk, Cerebellar hypoplasia, Clinodactyly... OMIM:618087
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Ventricular arrhythmia, Micrognathia, Pa... ORPHA:37553
Myofibrillar Myopathy 10
Knee flexion contracture, Mandibular prognathia, Increased QRS voltage, Kyphosis, Elbow flexion c... OMIM:619040
Shukla-Vernon Syndrome
Tapered finger, Pectus excavatum, Wide nasal base, Hypertelorism, Cerebellar atrophy, Long finger... OMIM:301029
Harel-Yoon Syndrome
Deeply set eye, Inability to walk, Hip dysplasia, Ataxia, Short nose, Frontal bossing, Hypertroph... OMIM:617183
Pde4D Haploinsufficiency Syndrome
Hypotension, Short phalanx of finger, Brachycephaly, Prominent nasal tip, Caudal interpedicular n... ORPHA:439822
Atelosteogenesis Type Ii
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... ORPHA:56304
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Inc... ORPHA:217085
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fi... ORPHA:166016
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Vesicoureteral reflux, Turricephaly, Wide nasal bridge, Large hands, Macrocephaly,... OMIM:613174
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Inc... ORPHA:217093
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Kyphosis, Inability to walk, Paucity of anterior horn motor neurons, Hip dysplasi... OMIM:611890
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Skull asymmetry, Narrow pelvis bone, Overlapping toe, Short neck, Limited elbow extension, Carpal... OMIM:616723
Miller-Dieker Syndrome
Sacral dimple, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Ataxia, Short nose, Nep... ORPHA:531
Noonan Syndrome 3
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Thickened... OMIM:609942
Distal Trisomy 18Q
Camptodactyly of finger, Progressive intervertebral space narrowing, Clinodactyly of the 5th fing... ORPHA:1716
Odontochondrodysplasia
Coxa valga, Abnormal metaphysis morphology, Short stature, Short nose, Frontal bossing, Depressed... ORPHA:166272
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Distal 22Q11.2 Microduplication Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Smooth philtrum, Optic disc... ORPHA:261337
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Rhabdomyolysis, Hypothermia, Ventricular tachycardia, Hepatomegaly, Arrhythmia, Leth... ORPHA:159
Mosaic Trisomy 14
Camptodactyly of finger, Wide nasal bridge, Narrow chest, Hypoplasia of penis, Frontal bossing, H... ORPHA:1703
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Short stature, Short nose, Depressed nasal bridge, Hypertelorism, Anteverted n... OMIM:616430
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Hand clenching, Inability to walk, Adducted thumb, Flexion contracture of finger, Depressed nasal... ORPHA:319332
17P13.3 Microduplication Syndrome
Wide nose, Clinodactyly of the 5th finger, Hypoplasia of penis, Short nose, Frontal bossing, Cong... ORPHA:217385
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Hip dysplasia, ... OMIM:615290
Cdkl5-Deficiency Disorder
Deeply set eye, Hallux valgus, Kyphosis, Synophrys, Gait disturbance, Broad proximal phalanges of... ORPHA:505652
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Acquired Von Willebrand Syndrome
Hypotension, Normocytic anemia, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena,... ORPHA:99147
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Butterfly verte... ORPHA:313892
Antisynthetase Syndrome
Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis sicca, Aortic regurgitation, Myo... ORPHA:81
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Synophrys, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Prominent ... OMIM:618316
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Metaphyseal dysplasia, Upper limb undergrowth, Coxa vara, Capita... OMIM:271650
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Wide nasal bridge, Butterfly vertebrae, Camptodactyly, Midface retrusi... OMIM:611209
Ring Chromosome 6 Syndrome
Wide nasal bridge, Short stature, Hypertelorism, Short neck, Microcephaly, Low posterior hairline... ORPHA:1448
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Wide nasal bridge, Broad hallux, Hirsutism, Postaxial hand polyda... OMIM:175700
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Narrow chest, Macrocephaly, Short nose, Frontal b... ORPHA:93298
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Short stature, ... ORPHA:2850
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Dental malocclusion, Right bundle branch block, Flexion contract... OMIM:614008
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Wide nasal bridge, Short stature, Abnormality of the wrist, Abnormal thumb mor... ORPHA:1825
Childhood Disintegrative Disorder
Urinary incontinence, Abnormal emotion/affect behavior, Social and occupational deterioration, Mo... ORPHA:168782
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... OMIM:619719
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Midface retrusion, Short nose, Narrow nasal bridge, Scoliosis, Microcephaly OMIM:618379
Diaphanospondylodysostosis
Thoracic hypoplasia, Narrow pelvis bone, Hypoplastic fingernail, Short neck, Absent in utero rib ... OMIM:608022
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular... ORPHA:3384
Diamond-Blackfan Anemia 21
Anemia, Micrognathia, Secundum atrial septal defect, Erythroid hypoplasia, Aortic regurgitation, ... OMIM:620072
3M Syndrome
Horizontal ribs, Enlarged thorax, Midface retrusion, Short neck, Scapular winging, Abnormal metap... ORPHA:2616
Alpha-Mannosidosis, Infantile Form
Cerebral cortical atrophy, Chiari malformation, Hepatosplenomegaly, Short neck, Pneumonia, Subcor... ORPHA:309282
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro... OMIM:271630
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Marfan Syndrome
Ascending tubular aorta aneurysm, Flexion contracture, Micrognathia, Camptodactyly, Pulmonary art... OMIM:154700
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Horizontal eyebrow, Inability to walk, Wide nasal bridge, Short stature, Renal dysplasia, Inferio... OMIM:618571
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Hyperlordosis, Anemia, Cerebral cortical atrophy, Sensorine... ORPHA:1192
Cornelia De Lange Syndrome 2
Brachycephaly, Synophrys, Hypertrophic cardiomyopathy, Hirsutism, Short neck, Thick eyebrow, Post... OMIM:300590
Achondroplasia
Thoracic hypoplasia, Short proximal phalanx of finger, Limited elbow extension, Narrow greater sc... ORPHA:15
Rafiq Syndrome
Wide nose, Sparse eyebrow, Sparse lateral eyebrow, Prominent nose, Wide nasal bridge, Short statu... OMIM:614202
Masa Syndrome
Hyperlordosis, Shuffling gait, Kyphosis, Short stature, Macrocephaly, Adducted thumb, Microcephal... OMIM:303350
Intellectual Disability, Wolff Type
Camptodactyly of finger, Wide nasal bridge, Clinodactyly of the 5th finger, Abnormality of the na... ORPHA:3080
Roifman Syndrome
Irregular capital femoral epiphysis, Hepatosplenomegaly, Broad femoral head, Postnatal growth ret... ORPHA:353298
Scheie Syndrome
Rhinitis, Sensorineural hearing impairment, Abnormal nerve conduction velocity, Wide mouth, Aorti... ORPHA:93474
Acromesomelic Dysplasia 1
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... OMIM:602875
Cardiomyopathy, Dilated, 3B
Increased circulating creatine kinase MB isoform OMIM:302045
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... ORPHA:94068
Gand Syndrome
Deeply set eye, Wide nasal bridge, Hypertelorism, Broad nasal tip, Long toe, Long fingers, Sparse... OMIM:615074
Osteogenesis Imperfecta
Flexion contracture, Delayed eruption of teeth, Micrognathia, Aortic dissection, Thrombocytopenia... ORPHA:666
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Right bundle branch block, Scapuloperon... OMIM:300695
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Cleft palate, Arthrogryposis multiplex congenita, Posteriorly rotated ... OMIM:601776
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Deeply set eye, Small hand, Short stature, Bulbous nose, Short foot, Intrauteri... ORPHA:261483
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Decreased palmar creases, Kyphosis, Wide nasal bridge, Short stature, Prominent na... OMIM:615834
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... ORPHA:17
Gm1 Gangliosidosis
Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Abnormal metaphysis morphology, Unsteady ... ORPHA:354
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Gait ataxia, Hyperlordosis, Increased vertebral height, Short stature, Truncal ataxia, Abnormal v... OMIM:616817
15Q Overgrowth Syndrome
Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd finger, S... ORPHA:314585
3C Syndrome
Atrioventricular canal defect, Optic atrophy, Micrognathia, Short neck, Cleft palate, Orofacial c... ORPHA:7
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... ORPHA:99094
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Bifid uvula, Aortic dissection, Cleft palate, Dilatation of the sinus of... ORPHA:284984
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Underdeveloped nasal alae, Sparse lateral eyebrow, Avascular necrosis of... OMIM:190351
Trichohepatoenteric Syndrome 1