Not currently registered for phenotyping at IMPC

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

Gene Summary

iduronidase, alpha-L

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Increased bone mineral density OMIM:265880
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
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
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Mucopolysaccharidosis Type 4
Short stature, Short thorax, Reduced bone mineral density, Anteverted nares, Gait disturbance, Mu... ORPHA:582
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteoporosis OMIM:166710
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Trimethylaminuria... ORPHA:468726
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Mucopolysaccharidosis, Type Vi
Hirsutism, Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Splenomegaly, ... OMIM:253200
Kniest Dysplasia
Short thorax, Abnormal bone structure, Short long bone, Depressed nasal bridge, Coronal cleft ver... ORPHA:485
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... ORPHA:175
Mucopolysaccharidosis, Type Vii
Hirsutism, Talipes equinovarus, Short stature, Splenomegaly, Postnatal growth retardation, Dermat... OMIM:253220
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Chondroitin sulfate excretion in urine, Osteoporosis, Ky... OMIM:253000
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration OMIM:614321
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Lower thoracic interpediculate narrowness, Splenomegaly, Beaking of vertebra... OMIM:252500
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration OMIM:617232
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Aortic valve stenosis, Osteoporosis, Kyphosis, Flaring o... OMIM:253010
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Hurler Syndrome
Short stature, Splenomegaly, Camptodactyly of finger, Anteverted nares, Hypertension, Mucopolysac... ORPHA:93473
Chondrodysplasia Calcificans Metaphysealis
Mucopolysacchariduria, Metaphyseal dysplasia, Metaphyseal chondrodysplasia OMIM:215050
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... OMIM:300280
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arth... ORPHA:564003
Mucopolysaccharidosis Type 1
Short stature, Abnormal form of the vertebral bodies, Splenomegaly, Thick nasal alae, Hypertrophi... ORPHA:579
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration OMIM:618135
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Mitral valve prolapse, Mitral regurgitation, Mandibular prognathia, Steppage gai... ORPHA:324410
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Short stature, Synophrys, Finger syndactyly, Thick ey... ORPHA:3268
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Coarse hair, Dense calvar... OMIM:252900
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, A... ORPHA:166119
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Lacunar stroke, Thoracic hypoplasia, Low ant... OMIM:618440
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Kyphoscoliosis, Coarse ha... OMIM:252930
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Sandal gap, Attention deficit hyperactivity disorder, Thick eyebrow, ... ORPHA:217340
X-Linked Intellectual Disability, Stoll Type
Broad nasal tip, Short stature, Hypertelorism, Frontal bossing, Anteverted nares, Widow's peak, C... ORPHA:85326
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Depressed nasal bridge, Hirsutism, C... OMIM:252940
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Epiphyseal dysplasia, Abnormality of the metaphysis, Ovoid vertebral bodie... ORPHA:583
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Ventricular septal defect, Cleft palate, Hypodontia, Mitral regurg... ORPHA:254346
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Filippi Syndrome
Underdeveloped nasal alae, Dystonia, Cerebellar atrophy, Hypertrichosis, Intrauterine growth reta... OMIM:272440
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Hypertrichosis, Short stature, Neurodegeneration, Mild short stature, Split hand, K... OMIM:309900
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... OMIM:616648
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Coarse hair, Dense calvar... OMIM:252920
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Spinal canal stenosis, Depressed nasal bridge, Thin bony cortex, Mi... OMIM:277600
Huntington Disease-Like 2
Dystonia, Dementia, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depr... OMIM:606438
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... ORPHA:412066
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Urinary urgency, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Pectus excavatum, Spindle-shaped finger, Short stature, Abnormal vertebral morp... ORPHA:166024
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... ORPHA:93323
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... ORPHA:40
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Depressed nasal bridge, Hirsutism, Talipes equinovarus, Short stature, Hypertelorism, Small hand,... OMIM:300434
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Short ... OMIM:251450
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Short nose, Hypertelorism, Oxycepha... ORPHA:221054
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Hypothermia, Aortic regurgitation, Tricus... OMIM:616501
Hurler Syndrome
C1-C2 subluxation, Hirsutism, Short stature, Splenomegaly, Hepatosplenomegaly, Anteverted nares, ... OMIM:607014
Weill-Marchesani Syndrome 2
Short stature, Short metatarsal, Broad skull, Aortic valve stenosis, Elbow flexion contracture, B... OMIM:608328
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment, Abnormality of the kidney OMIM:615989
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Short nose, Abnormal form of the vertebral bodies... ORPHA:2370
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Cerebellar atrophy, Short stature, Hypoplastic vertebral bod... OMIM:272200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Adducted thumb, Short stature, Hypertelorism, Wide nasal bridge, Frontal bossing, Aplasia/Hypopla... ORPHA:3207
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Mucopolysaccharidosis Type 3
Hirsutism, Abnormal form of the vertebral bodies, Splenomegaly, Reduced bone mineral density, Thi... ORPHA:581
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, High palate, Mitral valve prolapse, Mitral regurgitation, Long philtrum, Facial... OMIM:615539
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Steppage ga... OMIM:258450
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F... ORPHA:3329
Multiple Sulfatase Deficiency
Broad hallux phalanx, Hepatomegaly, Mucopolysacchariduria, Depressed nasal bridge, Short stature,... ORPHA:585
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Gm1 Gangliosidosis Type 1
Hirsutism, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Short long bone, Spatulate rib... ORPHA:79255
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Sparse hair, Small nail, Hypoplasia of the femoral head, Hypoplastic iliac... OMIM:617396
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... OMIM:609052
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid va... OMIM:612863
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Short stature, Hypertelorism, Overlapping toe, Inability to walk, Cerebellar hypoplasia, Microcep... OMIM:618572
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Anteverted nares, Sparse hair, Abnormal eyelash morphol... ORPHA:1425
Codas Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Coronal cleft vertebrae, Short stature, Short phal... OMIM:600373
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Pectus carinatum, Tapered finger, Short finger, Hypertelorism, Platyspond... OMIM:313420
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, High palate, Mitral valve prolapse, Tendon rupture, Mitral regurgitation... ORPHA:230851
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment, Renal insufficiency OMIM:615995
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy, Hearing impairment OMIM:255990
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, 2-3 toe syndactyly, Short stature, Toe clinodactyly, Micropenis, Broad skull, Bulbou... ORPHA:163979
Mucopolysaccharidosis Type 7
Metatarsus adductus, Mucopolysacchariduria, Diaphyseal thickening, Epiphyseal stippling, Anterior... ORPHA:584
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Spondylolisthesis, Short neck, Aortic valve stenosis OMIM:607016
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Crumpled ear, Distal arthrogryposis, Hip contracture, Aortic root aneurysm... OMIM:121050
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, High, narrow palate, Mitral valve prolapse, Failure of eruption of... ORPHA:3238
Bardet-Biedl Syndrome 10
Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615987
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... OMIM:618961
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morphology, Bowing of the long bone... ORPHA:93267
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Eczema, Mitral regurgitation, Patent duct... OMIM:615355
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Spondyloepiphyseal Dysplasia, Nishimura Type
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Oligosacchari... ORPHA:163649
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Micrognathia, Mitral valve prolapse, Increased mean... OMIM:612561
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Deep palmar crease, Short nose, Hepatosplenomegaly, Hypertrophic cardiomyopathy,... ORPHA:505248
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Short stature, Abnormal sternum morphology, Short nose, Cubitus valgus, ... ORPHA:457395
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm, Abnormal heart valve morphology,... ORPHA:98892
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Juberg-Hayward Syndrome
Hypospadias, Hypoplasia of the radius, Radioulnar synostosis, Toe syndactyly, Highly arched eyebr... ORPHA:2319
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Depressed nasal bridge, Talipes equinovarus, Short stature, Congenital bilateral hip d... ORPHA:85288
Simpson-Golabi-Behmel Syndrome, Type 2
Talipes equinovarus, Short nose, Micropenis, Anteverted nares, Broad palm, Congenital hip disloca... OMIM:300209
Diastrophic Dysplasia
Midface retrusion, Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges o... ORPHA:628
Mucopolysaccharidoses, Unclassified Types
Mucopolysacchariduria, Finger swelling OMIM:252700
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Hypertelorism, Small hand, Prominent nasal bridge, Slender finger, Kyphosis, Ataxi... OMIM:618443
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... ORPHA:363705
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Interphalangeal joint contracture of finger, Intrauterine growth retardation, Short... OMIM:606242
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Monosomy 18Q
Left-to-right shunt, Patent ductus arteriosus, Cerebellar hypoplasia, Aortic valve stenosis, Left... ORPHA:1600
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Long penis, Short nose, Abnormal localization of kidney, Coxa ... ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, Microcephaly, Thick eyebrow, Attention ... OMIM:617061
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, S... ORPHA:85451
Noonan Syndrome 13
Widely spaced teeth, Micrognathia, High palate, Mitral valve prolapse, Microdontia, Mitral regurg... OMIM:619087
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Convex nasal ridge, Broad long bones... OMIM:166210
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Diaphyseal thickening, Short stature, Wide nasal bridge, Frontal bossing,... ORPHA:1513
Aarskog-Scott Syndrome
Broad palm, Pectus excavatum, High anterior hairline, Short stature, Abnormal vertebral segmentat... ORPHA:915
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Maternal Uniparental Disomy Of Chromosome X
Shield chest, Depressed nasal bridge, Rocker bottom foot, Short stature, Cubitus valgus, Congesti... ORPHA:261519
Multiple Metaphyseal Dysplasia
Depressed nasal ridge, Gait disturbance, Short stature, Aplasia/Hypoplasia of the thumb, Abnormal... ORPHA:93430
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Smooth philtrum, Increased mean ... ORPHA:261250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... ORPHA:91387
Cednik Syndrome
Depressed nasal ridge, Nephrotic syndrome, Short stature, Hypertelorism, Prominent nasal bridge, ... ORPHA:66631
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Narrow mouth, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Hip contracture, Skeletal muscle atrophy, Mitral regurgitation, Knee flexi... OMIM:606631
Cerebrooculofacioskeletal Syndrome 2
Large beaked nose, Convex nasal ridge, Intrauterine growth retardation, Growth delay, Rocker bott... OMIM:610756
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Dandy-Walker malformation, Sparse eyelashes, Depressed nasal bridge, Short stature, Trigonocephal... OMIM:616901
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Short philtrum, Mitral regurgitation, Aortic root aneurysm, Attention ... OMIM:301039
Mucolipidosis Iii Gamma
Aortic regurgitation, Kyphosis, Hyperlordosis, Short neck, Aortic valve stenosis, Scoliosis OMIM:252605
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Cleft palate, Short lingual frenulum, Mitral reg... ORPHA:2326
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Pectus carinatum, Tapered finger, Short stature, Large hands, Wide nose, Hypert... ORPHA:276630
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Thin eyebrow, Tapered finger, Hypertelorism, Wide nasal bridge, Macrocephaly, Hi... OMIM:618147
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Generalized bone demineralization, Nephrotic syndrome OMIM:215250
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Macroglossia, Aortic regurgitation, Coarctation of aorta, Subcortical cerebra... ORPHA:96147
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Depressed nasal bridge, Abnormal form of th... ORPHA:2635
Mitral Valve Prolapse 1
High, narrow palate, High palate, Mitral valve prolapse, Mitral regurgitation, Reversed usual ver... OMIM:157700
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, Neutropenia, High palate, Mitral regurgitation, Monocytosis, Leukopen... OMIM:612541
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Mandibular prognathia, Situs inversus totalis, Aortic regurgitation, Aorti... OMIM:609008
Cranioectodermal Dysplasia
Abnormal diaphysis morphology, Pectus excavatum, Rhizomelia, Craniosynostosis, Osteoporosis, Abno... ORPHA:1515
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Mucolipidosis Type Ii
Hip contracture, Splenomegaly, Diastasis recti, Hepatosplenomegaly, Pulmonary insufficiency, Cond... ORPHA:576
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Coffin-Siris Syndrome 3
Depressed nasal bridge, Hirsutism, Hypertrichosis, Short stature, Intrauterine growth retardation... OMIM:614608
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Abnormal hair morphology, Short stature, Toe... ORPHA:3082
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad nasal tip, Cerebellar atrophy, Short stature, Alopecia, Wide nasal base, Deeply set eye, Br... OMIM:617763
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... OMIM:166600
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Abnormality of pelvic girdle bo... OMIM:265800
Polyvalvular Heart Disease Syndrome
Micrognathia, High palate, Mitral valve prolapse, Short philtrum, Dental crowding, Abnormality of... ORPHA:228410
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Depressed nasal ridge, Genu varum, Abnormality of femur morphology... ORPHA:1240
Mental Retardation, X-Linked 91
Short nose, Cubitus valgus, Small hand, Short 5th finger, Short foot, Low posterior hairline, Cli... OMIM:300577
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Mitral stenosis, Delayed eruption of teeth, Hearing impairment, Camptodactyly... OMIM:143095
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Fabry Disease
Hearing impairment, Achalasia, Transient ischemic attack, Hypertrophic cardiomyopathy, Hypertensi... ORPHA:324
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Craniofrontonasal Dysplasia
Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,... ORPHA:1520
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Broad palm, Small epiphyses, Anterior rib cupping, Depressed nasal bridge, Metaphy... OMIM:300232
Turnpenny-Fry Syndrome
Torticollis, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Low-set ears, ... OMIM:618371
Mosaic Variegated Aneuploidy Syndrome 2
Round ear, Ventricular septal defect, Micrognathia, Aortic regurgitation, Coarctation of aorta, S... OMIM:614114
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Broad palm, Gait disturbance, Pectu... ORPHA:93351
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Urinary bladder sphincter ... ORPHA:52430
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic ili... OMIM:300863
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior OMIM:616521
Steel Syndrome
Short stature, Hypertelorism, Dislocated radial head, Wide nasal bridge, Scoliosis OMIM:615155
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... ORPHA:75565
Short nose, Severe platyspondyly, Anteverted nares, Short long bone, Flat acetabular roof, Anteri... OMIM:258480
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Spinal canal stenosis, Depressed nasal bridge, Cone-shaped epiphysis, Intrauterine g... OMIM:614613
Ruvalcaba Syndrome
Short nose, Abnormal localization of kidney, Proximal placement of thumb, Intrauterine growth ret... ORPHA:3121
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Short nose, Slender finger, Cerebellar hypoplasia, Anteverted nares, Sp... ORPHA:391408
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Dysmetria, Tremor, Ataxia, Urinary incontinence, Irritability, Mental deterio... OMIM:618093
Pierpont Syndrome
Broad palm, Broad nasal tip, Short stature, Short finger, Brachycephaly, Wide nose, Short nose, H... OMIM:602342
Congenital Hypothyroidism
Sinusitis, Hypertension, Optic atrophy, Hypothermia, Macroglossia, Oral cleft, Abnormal pericardi... ORPHA:442
Zimmermann-Laband Syndrome 3
Broad nasal tip, Triphalangeal thumb, Small nail, Hypertrichosis, Low anterior hairline, Absent t... OMIM:618658
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Mitral regurgitatio... ORPHA:70474
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Knee osteoarthritis, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Lamb-Shaffer Syndrome
Depressed nasal bridge, Pectus carinatum, Long fingers, Wide nasal bridge, Clinodactyly, Frontal ... OMIM:616803
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Highly arched eyebrow, Cerebellar atrophy, Depressed nasal bridge, Gro... ORPHA:438178
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Short nose, Short ribs, Severe platyspondyly, Iliac crest serration, Anteverted na... OMIM:613320
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... OMIM:223800
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension, Mandibular prognathia, ... ORPHA:401923
Short nose, Splenomegaly, Abnormally ossified vertebrae, Depressed nasal bridge, Frontal bossing,... ORPHA:2746
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Cerebral atr... OMIM:618453
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Cognitive impairment, Le... ORPHA:206559
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Midface retrusion, Thickened calvaria, Short stature, Kyphoscoliosis, Sho... OMIM:616331
Arterial Tortuosity Syndrome
Hypertension, Micrognathia, High palate, Long philtrum, Ventricular hypertrophy, Aortic regurgita... OMIM:208050
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Talipes equinovarus, Short stature, Kyphosis, Hip dislocation, Inability to walk, Waddl... OMIM:616756
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Left ven... OMIM:619167
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Metaphyseal irregularity, Abnormal thorax morphology, Splenomeg... OMIM:269920
2P15P16.1 Microdeletion Syndrome
Smooth philtrum, Hearing impairment, Camptodactyly of finger, Cerebellar hypoplasia, Low-set ears... ORPHA:261349
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Dystonia, Hirsutism, Dysmetria, Short nose, Hypertelorism, Microcephaly, Ataxia, Inability to wal... OMIM:618087
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Fibrochondrogenesis 1
Broad ischia, Short nose, Joint contracture of the hand, Short ribs, Hypoplastic toenails, Campto... OMIM:228520
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Tatton-Brown-Rahman Syndrome
Chiari malformation, Mitral regurgitation, Mandibular prognathia, Aortic root aneurysm, Kyphoscol... ORPHA:404443
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Splenomegaly, Low posterior hairline, Hypertrophic cardiomyopathy, Nephrotic syndrome,... OMIM:617303
Narcolepsy Type 1
Obesity, Transient global amnesia ORPHA:2073
Gnathodiaphyseal Dysplasia
Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia OMIM:166260
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation OMIM:225320
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Diaphyseal sclerosis, Wide nasal bridge, Craniofacial hyperostosis, Cortic... OMIM:122860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Short nose, Short ribs, Micropenis, Cerebellar hypoplasia, Anteverted nares, Short f... OMIM:616897
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing, Short nose, ... OMIM:311300
Beh├žet Disease
Retrobulbar optic neuritis, Cerebral ischemia, Splenomegaly, Optic neuritis, Gastrointestinal hem... ORPHA:117
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypertension, Conductive hearing impairment, Mitral valve prolapse, Short ... OMIM:611962
Gand Syndrome
Broad nasal tip, Long fingers, Hypertelorism, Wide nasal bridge, Hyperactivity, Long toe, Sparse ... OMIM:615074
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Cerebellar atrophy, Wide mouth, Mitral regurgitation, Mandibular prognathia, Dysme... OMIM:619576
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Temtamy Syndrome
Micrognathia, Long philtrum, Aortic regurgitation, Aortic aneurysm, Lop ear, Low-set ears, Hypopl... OMIM:218340
Trisomy X
Tall stature, Cognitive impairment, Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasi... ORPHA:3375
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, Palpitations, Ventricular hypertrophy, Ven... ORPHA:263297
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Short nose, Deviation of finger, Frontal bossing, Ante... ORPHA:1450
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Short stature, Nephronophthisis, Abnormal sternum morpholo... ORPHA:474
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Toe syndactyly, Renal hypoplasia, Chiari malformation, Depressed nasal bridge, Renal... ORPHA:171839
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Micrognathia, Cardiomyopathy OMIM:600721
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cerebellar atrophy, Pneumonia, Macroglossia, Aortic regurgitation, Subcortical... ORPHA:309288
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Overfolded helix, Pa... OMIM:617506
Non-Distal Trisomy 10Q
Pectus excavatum, Convex nasal ridge, Depressed nasal bridge, Short stature, Brachycephaly, Abnor... ORPHA:1695
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Intrauterine growth retardation, Growth delay, Short stature, Deep palmar crease, To... ORPHA:2872
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Nicolaides-Baraitser Syndrome
Curly eyelashes, Abnormal hair pattern, Clubbing of toes, Anteverted nares, Thick nasal alae, Spa... ORPHA:3051
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee fle... OMIM:603387
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Micrognathia, High palate, Mitral regurgitation, Limb musc... OMIM:617258
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Short phalanx of finger, Broad phalanx, Severe short stature, 11... OMIM:618724
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Inflammatory abnormality of the skin, Ventricular septal defect, Hepatome... ORPHA:26793
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Short nose, Kyphosis, Thick hair, Thick eyebrow, Macrocephaly, Low posterior ha... ORPHA:2429
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Ataxia, Macrocephaly, Congestive heart failure ORPHA:796
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, High palate, Mitral valve prolapse, Mitra... OMIM:616564
Craniodigital-Intellectual Disability Syndrome
Short stature, Brachycephaly, Short nose, Long eyelashes, Abnormal hair pattern, Finger syndactyl... ORPHA:1514
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Absent thumb, Hypoplasia of the... OMIM:612447
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short stature, Micropenis, Short toe, Short phalanx of finger,... OMIM:212720
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Crumpled ear, Mitral valve prolap... ORPHA:284979
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Abnormality of the optic disc, Hearing impairment, Thi... ORPHA:508498
Loeys-Dietz Syndrome 5
Cleft palate, Smooth philtrum, Aortic root aneurysm, Overfolded helix, Ventricular septal defect,... OMIM:615582
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Increased intervertebral space, Short greater sciatic notch, Tali... OMIM:256050
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Low hanging columella, Anteverted nares, Delayed cranial suture closure, Facial hirsu... OMIM:619383
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Rocker bottom foot, Talipes equinovarus, Hand c... OMIM:611890
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Coarctation of aorta, Low-set, posteriorly rotated ears, Thin vermil... OMIM:615502
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Abnormality of the ulna, Short stature, Epiphyseal stippling, Short metatarsal, Short nose, Abnor... ORPHA:950
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosus, Smooth philtrum... ORPHA:261330
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Midface retrusion, Short metatarsal, Short nose, 11 p... OMIM:108720
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Short stature, Short nose, Abnormal form of the vertebral bodies, Cubitus valgus, ... ORPHA:1327
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Tetrasomy 5P
Pectus excavatum, Midface retrusion, Talipes equinovarus, Long fingers, Short nose, Pulmonary art... ORPHA:3309
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Short stature, Postaxial polydactyly, Wide nose, Prominent metopic ... OMIM:619185
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Wafer-thin platyspondyly, Short stature, Short nose, Hypoplasia of the radius, Cerebellar hypopla... OMIM:602613
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Abnormality of the vertebral column, Abnormality of the spleen, Broad metatarsal, Pericarditis, P... ORPHA:228123
Distal Monosomy 10Q
Short stature, Short metatarsal, Short nose, Postnatal growth retardation, Cerebellar hypoplasia,... ORPHA:96148
Mulibrey Nanism
Hepatomegaly, Depressed nasal bridge, Intrauterine growth retardation, Short stature, Growth dela... OMIM:253250
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Midface retrusion, Brachycephaly, Short nose, Long eyelashes, Wide nasal bridge, C... OMIM:618577
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnorma... OMIM:618654
Shprintzen-Goldberg Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia... ORPHA:2462
Chromosome 18Q Deletion Syndrome
Cleft palate, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Stenosis of t... OMIM:601808
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Mitral stenosis, Raynaud phenomenon, Delayed eruption of teeth, Trans... ORPHA:740
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, A... ORPHA:3098
Jaberi-Elahi Syndrome
Dystonia, Cerebellar atrophy, Depressed nasal bridge, Sparse eyelashes, Talipes equinovarus, Hand... OMIM:617988
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Vertebral fusion, Hemivertebrae, Short stature, Growth delay, S... OMIM:615583
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... ORPHA:746
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pectus excavatum, Abnormal intervertebral disk morphology, Abnormali... ORPHA:2701
Achondrogenesis Type 1B
Talipes equinovarus, Short nose, Short thorax, Severe short stature, Frontal bossing, Short foot,... ORPHA:93298
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Ventricular septal defect, Eczema, Skeletal muscle atrophy, Hypothermia, Lon... ORPHA:488632
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Patent ductus arteriosus, Misali... OMIM:265380
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Cerebellar atrophy, Pectus carinatum, Short nose, Frontal bossing, A... OMIM:617183
Hall-Riggs Mental Retardation Syndrome
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Intrauterine growth retardation, I... OMIM:234250
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, Butterfly vertebrae, Dental crowding, Vertebral fusion, M... ORPHA:313892
Smith-Mccort Dysplasia 1
Genu varum, Hypoplastic acetabulae, Metaphyseal irregularity, Atlantoaxial instability, Short pha... OMIM:607326
Depressed nasal bridge, Cone-shaped epiphysis, Short stature, Bowing of the long bones, Short nos... ORPHA:166272
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostos... ORPHA:2145
Hamamy Syndrome
Micrognathia, Smooth philtrum, High palate, Hypodontia, Mitral regurgitation, Long philtrum, Wide... OMIM:611174
Metaphyseal Acroscyphodysplasia
Genu varum, Short humerus, Short toe, Anteverted nares, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Congenital Sialidosis Type 2
Telangiectasia, Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Dysmetria, Abnormal h... ORPHA:93400
Monosomy 5P
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Hyperteloris... ORPHA:281
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Sparse lateral eyebrow, Short nose, Wormian bones, Wide... OMIM:601224
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Broad nasal tip, Pectus excavatum, Short stature, Tapered finger, Flared nost... ORPHA:284180
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... OMIM:618728
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Micromelia, Thoracic hypoplasia, Bowing of the legs, Metaph... OMIM:608728
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Increase... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Short stature, Narrow p... OMIM:616723
Distal 22Q11.2 Microduplication Syndrome
Smooth philtrum, Patent ductus arteriosus, Camptodactyly of finger, Low-set ears, Protruding ear,... ORPHA:261337
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment, Micropenis OMIM:615983
Parastremmatic Dwarfism
Genu valgum, Severe short stature, Kyphosis, Short neck, Scoliosis OMIM:168400
Talipes equinovarus, Short nose, Nephroblastomatosis, Vertebral segmentation defect, Depressed na... OMIM:608022
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Long fingers, Large hands, Craniosynostosis, Hypotelorism, Wide nasal bridge, Hype... OMIM:613174
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Short stature, Kyphosis, Waddling gait, Delayed ossification of carpal bones, B... OMIM:618392
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Even-Plus Syndrome
Depressed nasal ridge, Highly arched eyebrow, Renal hypoplasia, Coronal cleft vertebrae, Brachyce... OMIM:616854
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Micrognathia, Acute lymphoblastic leukemia, Abnormal aortic morphology... ORPHA:1052
Alopecia-Intellectual Disability Syndrome
Growth delay, Short stature, Alopecia, Split hand, Microcephaly, Abnormal nasal morphology, Spars... ORPHA:2850
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... ORPHA:1880
Gm1 Gangliosidosis
Hirsutism, Short stature, Abnormal form of the vertebral bodies, Splenomegaly, Hepatosplenomegaly... ORPHA:354
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, ... OMIM:615993
Borjeson-Forssman-Lehmann Syndrome
Widely spaced toes, Thickened calvaria, Short stature, Tapered finger, Shortening of all distal p... OMIM:301900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Hypothermia, Persis... OMIM:618775
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... ORPHA:168549
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia, Skin rash, Arrhythmia ORPHA:29822
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Moderate postnatal growth retardation, Short middle phalanx of finger, Finger syndactyly, Turrice... ORPHA:1005
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Grant Syndrome
Abnormality of the glenoid fossa, Depressed nasal bridge, Large fontanelles, Brachycephaly, Short... ORPHA:2097
Miller-Dieker Syndrome
Growth delay, Short nose, Ataxia, Sacral dimple, Nephropathy, Anteverted nares, Clinodactyly of t... ORPHA:531
Pde4D Haploinsufficiency Syndrome
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... ORPHA:439822
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Short nose, Long fibula, Short ribs, Atlantoaxial instab... OMIM:271665
Familial Thyroid Dyshormonogenesis
Hypothermia, Macroglossia, Bradycardia, Sensorineural hearing impairment, Lethargy ORPHA:95716
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Xerostomia, Aortic regurgitation, Pulmonary ar... ORPHA:81
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Depressed nasal ridge, Cerebral degeneration, Hepatomegaly, Hypertrichosi... OMIM:230500
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Chromosome 16P13.3 Duplication Syndrome
Pectus excavatum, Tapered finger, Long fingers, Short nose, Proximal placement of thumb, Hip disl... OMIM:613458
Chromosome 10Q26 Deletion Syndrome
Short stature, Micropenis, Postnatal growth retardation, Limited elbow extension, Low posterior h... OMIM:609625
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Hypothermia, Lethargy ORPHA:95717
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short stature, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacarpal, Proptosi... OMIM:614078
17P13.3 Microduplication Syndrome
Wide nose, Short nose, Hypertelorism, Congenital hip dislocation, Frontal bossing, Clinodactyly o... ORPHA:217385
Ring Chromosome 6 Syndrome
Short stature, Hypertelorism, Wide nasal bridge, Short distal phalanx of finger, Low posterior ha... ORPHA:1448
Oculodentodigital Dysplasia
Thin anteverted nares, Brittle hair, Short nose, Abnormal form of the vertebral bodies, Palmoplan... ORPHA:2710
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Abnormality of the shoulder girdle musculature, Inability to walk, Thorac... ORPHA:206546
Mucopolysaccharidosis Type 2, Severe Form
Short stature, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Dermatan sulfate excret... ORPHA:217085
Distal Trisomy 18Q
Pectus excavatum, Large hands, Short nose, Progressive intervertebral space narrowing, Prominent ... ORPHA:1716
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Broad nasal tip, Fragmented epiphyses, Short stature, Abnormal sternum morpholog... ORPHA:166016
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Short nose, Cubitus valgus, Coarse hair, Genu recurvatum, Reduced bone mineral den... ORPHA:1185
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, Mandibular prognathia, Increased QRS voltage, Pro... OMIM:619040
Mucopolysaccharidosis Type 2, Attenuated Form
Short stature, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Dermatan sulfate excret... ORPHA:217093
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Hirsutism, Short stature, Dysmetria, Global brain atrophy, Small hand, Aplasi... OMIM:610185
2Q32Q33 Microdeletion Syndrome
Fine hair, Broad hallux phalanx, Convex nasal ridge, Growth delay, Talipes equinovarus, Brachycep... ORPHA:251019
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... OMIM:310200
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the vertebral column, Mitral valve prolapse, Hip osteoarthritis, Abnormal heart mo... ORPHA:85438
Shukla-Vernon Syndrome
Cerebellar atrophy, Tapered finger, Long fingers, Hypertelorism, Wide nasal base, Broad-based gai... OMIM:301029
Acromesomelic Dysplasia 1
Short nail, Short metatarsal, Thoracolumbar interpediculate narrowness, Short nose, Hypoplasia of... OMIM:602875
Warburg Micro Syndrome 3
Hypertrichosis, Low anterior hairline, Brachycephaly, Kyphoscoliosis, Short nose, Secondary micro... OMIM:614222
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Pericardial effusion, Hypothermia, Leukopenia, Infectious... ORPHA:292
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Antevert... ORPHA:15
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Broad hallux phalanx, Hirsutism, Joint contracture of the hand, Broad hallux, Delaye... OMIM:175700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Intrauterine growth retardation, Abnormality of the calcaneus, Thin ribs, ... ORPHA:163966
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Hypertelorism, Platyspondyly, Fl... OMIM:607095
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Prominent nose, Depressed nasal bridge, Hemivertebrae, Abnormal form of the vertebral bodies, Hyp... ORPHA:2180
3M Syndrome
Hypospadias, Short stature, Short thorax, Bulbous nose, Anteverted nares, Hypoplastic pelvis, Inc... ORPHA:2616
Wild Type Abeta2M Amyloidosis
Bone cyst, Abnormal intervertebral disk morphology, Arthritis, Gastrointestinal hemorrhage, Conge... ORPHA:85446
Fibrochondrogenesis 2
Thoracic hypoplasia, Metaphyseal widening, Short nose, Platyspondyly, Short ribs, Hypoplastic isc... OMIM:614524
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Tremor, Ataxia, Unsteady gait, Obesity OMIM:614947
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Flared il... ORPHA:89936
Meningococcal Meningitis
Shock, Infectious encephalitis, Hypothermia, Fever, Hearing impairment, Papilledema, Skin rash, H... ORPHA:33475
Mcdonough Syndrome
Prominent nose, Pectus excavatum, Single transverse palmar crease, Pectus carinatum, Short statur... OMIM:248950
Velo-Facial-Skeletal Syndrome
Short stature, Large hands, Hypertelorism, Wide nasal bridge, Abnormal thumb morphology, Short pa... ORPHA:3424
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatos... OMIM:618234
Mosaic Trisomy 14
Hypospadias, Hypertelorism, Wide nasal bridge, Prominent nasal bridge, Frontal bossing, Bilateral... ORPHA:1703
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Gait disturbance, Pectus excavatum, Short stature, Renal dysplasia, Short nose, Hypertelorism, Wi... OMIM:618571
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... OMIM:613330
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Underdeveloped nasal alae, Sparse hair... OMIM:190351
Diastrophic Dysplasia
Costal cartilage calcification, Irregular epiphyses, Talipes equinovarus, Short finger, Ulnar dev... OMIM:222600
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Micrognathia, Dental crowding, Mitral regurgitation, Pulmo... OMIM:614008
Rafiq Syndrome
Underdeveloped nasolabial fold, Prominent nose, Highly arched eyebrow, Broad eyebrow, Flat occipu... OMIM:614202
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Brachycephaly, Kyphosis, Abn... ORPHA:349
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Depressed nasal bridge, Pectus carinatum, Short stature, Short nose, Hypertel... OMIM:616430
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Talipes equinovarus, Hand clenching, Congenital hip dislocation, Kyphosis, Overlapping fingers, M... OMIM:618291
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Achondrogenesis Type 1A
Multiple rib fractures, Short nose, Short thorax, Severe short stature, Frontal bossing, Short fo... ORPHA:93299
3C Syndrome
Hypospadias, Short stature, Short nose, Finger syndactyly, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:7
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atrophy of the... ORPHA:99027
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Relative macrocephaly, Midface retrusion, Short stature, Short nose, Long eyelas... OMIM:618529
Premature Aging Syndrome, Penttinen Type
Narrow nose, Midface retrusion, Prominent nasal bridge, Wormian bones, Osteopenia, Thin calvarium... OMIM:601812
Achard Syndrome
Arachnodactyly, Broad skull, Brachycephaly OMIM:100700
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Smooth philtrum, Cardiomegaly, Tricuspid regurgitation, Patent ductus ... OMIM:618652
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Generalized amyotrophy, Progressive gait ataxia, Progressive cerebellar ata... ORPHA:1177
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short long bone, Flat acetabular roof, Con... OMIM:609616
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Intrauterine growth retardation, Large fontanelles, Growt... ORPHA:238750
Mental Retardation, Autosomal Recessive 61
Prominent nose, Highly arched eyebrow, Talipes equinovarus, Tapered finger, Hypertelorism, Long e... OMIM:617773
Intellectual Disability, Wolff Type
Hypospadias, Large hands, Low posterior hairline, Hypertelorism, Wide nasal bridge, Bulbous nose,... ORPHA:3080
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal form of the vertebral bodies, Postnatal growth retardation, Anteverted nares, Clubbing o... ORPHA:73230
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Micrognathia, Upper limb undergrowth, Small epiphyses, Laryngotracheoma... ORPHA:94068
15Q Overgrowth Syndrome
Smooth philtrum, Malar flattening, Low-set ears, Microretrognathia, Abnormality of the incisor, M... ORPHA:314585
Masa Syndrome
Adducted thumb, Talipes equinovarus, Short stature, Shuffling gait, Kyphosis, Macrocephaly, Hyper... OMIM:303350
Osteogenesis Imperfecta
Progressive hearing impairment, Carious teeth, Aortic root aneurysm, Abnormal form of the vertebr... ORPHA:666
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones, Abnormal form... ORPHA:1801
3Q13 Microdeletion Syndrome
Abnormality of the urinary system, Hypertelorism, Wide nasal bridge, Narrow chest, Abnormality of... ORPHA:1621
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Depressed nasal bridge, Short stature, Abnormal localization of kidney, Hypertelorism, Proximal p... ORPHA:1825
Trisomy 4P
Hypospadias, Depressed nasal bridge, Radial club hand, Low anterior hairline, Short stature, Hype... ORPHA:1738
Ruvalcaba Syndrome
Underdeveloped nasal alae, Narrow nose, Short stature, Short metatarsal, Small hand, Kyphosis, Sh... OMIM:180870
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Small hand, Short foot, Bulbous nose, Sparse body... ORPHA:261483
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... ORPHA:444072
Roifman Syndrome
Short stature, Prominent eyelashes, Epiphyseal dysplasia, Hepatosplenomegaly, Postnatal growth re... ORPHA:353298
Hypophosphatasia, Childhood
Short stature, Bowing of the legs, Craniosynostosis, Frontal bossing, Waddling gait, Proptosis, R... OMIM:241510
Marfan Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Malar flattening, Camptodactyly, Premature osteoarth... OMIM:154700
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Clubbing of fingers, Sparse hair, ... ORPHA:189
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hirsutism, Gait imbalance, Prominent protruding coccyx, Bulbous nose, Postnatal growth retardatio... OMIM:300966
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Urinary incontinence, Menta... ORPHA:168782
Kniest Dysplasia
Gait disturbance, Depressed nasal bridge, Coronal cleft vertebrae, Midface retrusion, Flattened, ... OMIM:156550
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Cerebellar atrophy, Hypertrichosis, Hypertelorism, Kyphosis, Ataxia, Bilateral ... ORPHA:85317
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Scheie Syndrome
Hepatomegaly, Wide mouth, Rhinitis, Aortic regurgitation, Splenomegaly, Sensorineural hearing imp... ORPHA:93474
Al-Raqad Syndrome
Short nose, Sandal gap, Deeply set eye, Microcephaly, Inability to walk, Unsteady gait, Brachydac... OMIM:616459
Alpha-Mannosidosis, Infantile Form
Subcortical cerebral atrophy, Hepatosplenomegaly, Pancytopenia, Abnormality of the sphenoid sinus... ORPHA:309282
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... ORPHA:500
Cornelia De Lange Syndrome 2
Hirsutism, Short stature, Proximal placement of thumb, Postnatal growth retardation, Anteverted n... OMIM:300590
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metatarsal, Low hanging columella, Hypoplastic sacrum, Sparse hair, Breast hypoplasia, Hypo... OMIM:614813
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... ORPHA:98912
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Mesomelic/rhizomelic limb s... ORPHA:1354
Gaucher Disease, Type I
Hypertension, Hepatomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Ane... OMIM:230800
Greenberg Dysplasia
Epiphyseal stippling, Abnormal bone structure, Supernumerary vertebral ossification centers, Shor... OMIM:215140
Warburg Micro Syndrome 1
Hypertrichosis, Short stature, Kyphoscoliosis, Facial hypertrichosis, Osteoporosis, Wide nasal br... OMIM:600118
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Intrauterine growth retardation, Short stature, Cubitus valgus, Disharmonious carpal... OMIM:608154
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... ORPHA:1306
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Thanatophoric Dysplasia
Abnormal ilium morphology, Depressed nasal bridge, Intrauterine growth retardation, Cloverleaf sk... ORPHA:2655
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Narrow nasal bridge, Midface retrusion, Scoliosis, Microcephaly OMIM:618379
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Optic atrophy, Cerebellar atrophy, Hypothermia, Progressive neurolog... OMIM:618329