Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 30 (zinc transporter), member 5
Synonyms:
ZTL1,  Znt5,  1810010K08Rik,  Zntl1,  ZnT-5

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 Slc30a5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc30a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis, Hypertension, Complete duplication of the dis... ORPHA:1879
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Short stature, Short thumb, Arrhythmia, ... OMIM:618453
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Flexion contrac... OMIM:168400
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... OMIM:310300
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo... OMIM:618392
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Brachydactyly, Arrhythmia, Dil... ORPHA:168796
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Spinal rigidi... OMIM:181350
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Scoliosis, Joint contracture, Arrhythmia, Severely reduced left ventric... OMIM:611705
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98855
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... ORPHA:392
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98863
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Bradycardia, Joint contracture of the 5th finger, Growth delay, F... OMIM:614407
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98853
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb... OMIM:156530
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o... OMIM:271530
Rhizomelic Chondrodysplasia Punctata, Type 5
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Sinus tachycar... OMIM:616716
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Combined Oxidative Phosphorylation Deficiency 39
Scoliosis, Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Int... OMIM:618397
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Generalized lipodystrophy, Short stature, Failure to thrive, Slender build, Slender l... ORPHA:50811
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Short stature, E... ORPHA:79106
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Kyphosis, Fla... ORPHA:93314
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... ORPHA:40
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ... ORPHA:371428
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses... OMIM:222600
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Clinodactyly of the 4th ... OMIM:261990
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Desminopathy
Congestive heart failure, Spinal rigidity, Concentric hypertrophic cardiomyopathy, Supraventricul... ORPHA:98909
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen... ORPHA:93360
Proteus Syndrome
Kyphoscoliosis, Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, F... OMIM:176920
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr... OMIM:619795
Caffey Disease
Scoliosis, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical thickeni... ORPHA:1310
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ... OMIM:603546
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ... ORPHA:3152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis... OMIM:618728
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Joint contracture, Kyphosis OMIM:611225
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis involving ta... OMIM:277950
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Scoliosis, Atrophic scars, Premature osteoarthr... OMIM:130060
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Weight loss, Arrhythmia ORPHA:85447
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy... ORPHA:970
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con... OMIM:313420
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Hyperostosis Corticalis Generalisata
Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:3416
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Failure to thrive, Metaphyseal dysplasia, I... OMIM:234250
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Atrophic scars, Kyphosis, Flexion contracture, Hip disloca... OMIM:616471
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho... OMIM:251450
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Atrial Septal Defect, Ostium Primum Type
Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, F... ORPHA:99106
Holt-Oram Syndrome
Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Aplasia of the 1st metacarpal, 1-2 ... OMIM:142900
Ck Syndrome
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Abnormal digit morphology, Kyphosis,... OMIM:300831
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis, Short stature OMIM:617404
Pyle Disease
Limited elbow extension, Genu valgum, Reduced bone mineral density, Scoliosis, Metaphyseal wideni... OMIM:265900
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Scoliosis, Osteolytic defects of the distal phalanges of the... OMIM:614008
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Cox... OMIM:259450
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Short long bone, Joint hypermobility, Coxa valga, Inguinal hernia,... OMIM:618363
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Short stature, Limb undergrowt... ORPHA:2204
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Neonatal short-limb short stature, Proximal placeme... ORPHA:628
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis, Short stature, Small for gestational age, Talipes... ORPHA:85288
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... OMIM:616201
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexion cont... OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck, Dilated car... OMIM:300718
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Kearns-Sayre Syndrome
Third degree atrioventricular block, Progressive intervertebral space narrowing ORPHA:480
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... ORPHA:3409
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umb... ORPHA:95717
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy, Talipes equinovarus OMIM:617336
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Kypho... OMIM:618658
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Enlarged metacarpophalangeal joints, Enlarged inte... OMIM:208230
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Inguinal hernia, Scoliosis, Short met... OMIM:180870
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Bruck Syndrome
Scoliosis, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stiffness, Short stature, Plat... ORPHA:2771
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,... OMIM:259440
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Shortening of all middle phalanges of the finger... OMIM:301900
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Short stature, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of th... OMIM:184252
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Reduced bone mineral density, Scoliosis, Vertebral segmentation defect, Kyphosis, Se... ORPHA:2617
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp... OMIM:112350
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility OMIM:618323
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Scoliosis, Hypertrophic cardiomyopathy,... OMIM:618234
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Spinal rigidity, Prolonged QT interval, Bradycardia, Atrial fibrillation, Scoliosis, ... OMIM:613327
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome, Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd fi... OMIM:140450
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Kyphosis, Failure to thrive, Flexion contracture, Intrauterine growt... OMIM:618237
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Elbow flexion contracture, Kyphosi... OMIM:619040
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Sinus tachycardia, Cardiomyopathy, Flared iliac wing, Joi... OMIM:253200
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula... OMIM:607326
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Short metacarpal, Rhizomelic arm shortening, Iliac c... ORPHA:93317
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Shoulder flexion contracture, ... ORPHA:536516
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Adducted thumb, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, ... ORPHA:75840
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Wide anterior fontanel, L... ORPHA:3098
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Absent ossification of capital femora... ORPHA:226313
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le... ORPHA:45452
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Joint ... ORPHA:582
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted iliac wing, Joint hy... OMIM:253010
Arthrogryposis, Distal, Type 4
Osteopenia, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly,... OMIM:609128
Meier-Gorlin Syndrome 7
Heart block, Joint hypermobility, Dislocated radial head, Wide anterior fontanel, Scoliosis, Vert... OMIM:617063
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Flexion contracture of finger... OMIM:618484
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Sc... OMIM:313400
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Scoliosis, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis, Talipes equinovarus, Hip dislo... OMIM:616756
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Reduced bone mineral density, Decreased fibular diamete... OMIM:619489
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Shoulder dislocation, Scoliosis, Kyphosis, Arachnodactyly, Umbilical hernia... ORPHA:2181
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Short stature, Obesity, Large hands, Tapered finger ORPHA:276630
Mucopolysaccharidosis, Type Iva
Hyperlordosis, Kyphosis, Constricted iliac wing, Joint hypermobility, Coxa valga, Cervical sublux... OMIM:253000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial ... OMIM:612350
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Failure to thrive, Kyphosis, Hip dysplasia OMIM:620007
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Scoliosis, Finger joint contracture, Kyphosis, Osteoporosis, Short st... ORPHA:48431
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification, Abnormal pelvic girdle bone morp... ORPHA:2097
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Thoracic kyphosis, Femoral bowing, Broad thumb, Platyspondyly, ... OMIM:619638
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Obesity, Atrioventricular block, Arrhythmia, Tac... ORPHA:26793
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis, Hip contracture, Achilles tendon contracture, Knee flexion co... OMIM:615290
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Osteogenesis Imperfecta, Type Viii
Disproportionate short-limb short stature, Femoral bowing, Tibial bowing, Short metacarpal, Kypho... OMIM:610915
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Cerv... ORPHA:15
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... OMIM:300257
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Camptodactyly, Kyphosis, Short neck, Arthrogryposis multiplex congenita OMIM:618393
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Growth d... OMIM:600081
Intellectual Developmental Disorder, Autosomal Dominant 26
Clinodactyly of the 5th finger, Inguinal hernia, Scoliosis, Kyphosis, Short stature, Umbilical he... OMIM:615834
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Postnatal growth retardation, Proxima... ORPHA:94065
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital-Onset Steinert Myotonic Dystrophy
Scoliosis, Decreased body weight, Obesity, Bundle branch block, First degree atrioventricular block ORPHA:589821
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ingu... ORPHA:137834
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Scoliosis, Kyphosis, Hand clenching, Hip dysplasia, Short neck, Arthrogryposi... OMIM:611890
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Scoliosis, Synostosis of carpal bones, Kyphosis, Short stature, Obesity, Arrhyth... ORPHA:3191
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Mucolipidosis Iii Gamma
Genu valgum, Claw hand deformity, Flat capital femoral epiphysis, Aortic regurgitation, Shoulder ... OMIM:252605
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Pulmonary venous hypertension,... ORPHA:75565
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Growth d... OMIM:264700
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Biconcave vertebral bod... OMIM:617952
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Failure to thrive, Bradycardia OMIM:619048
Schaaf-Yang Syndrome
Rocker bottom foot, Scoliosis, Tapered finger, Short foot, Camptodactyly, Kyphosis, Short stature... OMIM:615547
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Growth d... OMIM:277440
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand pol... ORPHA:65759
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Abnormality of the calcaneus,... ORPHA:40366
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis, Short stature ORPHA:2786
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Hyperlordosis, Femoral bowing, Short long bone, Kyphos... OMIM:618019
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Scoliosis, Kyphosis, Congenital contracture... ORPHA:352490
Mucopolysaccharidosis Type 3
Genu valgum, Reduced bone mineral density, Inguinal hernia, Abnormal form of the vertebral bodies... ORPHA:581
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular ro... OMIM:271700
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of joint mobi... ORPHA:3454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Subdural hemorrhage, Kyphosis, Ar... OMIM:618291
Lyme Disease
Atrioventricular block, Arthritis, Arrhythmia ORPHA:91546
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Me... OMIM:613320
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Inguinal her... OMIM:613848
Masa Syndrome
Hyperlordosis, Kyphosis, Short stature, Adducted thumb, Talipes equinovarus OMIM:303350
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi... ORPHA:1525
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Congenital Myopathy 22A, Classic
Spinal rigidity, Bradycardia, Scoliosis, Congenital finger flexion contractures, Kyphosis, Tricus... OMIM:620351
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Craniofacial osteo... ORPHA:1328
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Spondylolisthesis, I... OMIM:252600
Familial Expansile Osteolysis
Pathologic fracture, Thin bony cortex, Bowing of the long bones, Osteolysis OMIM:174810
Fabry Disease
Delayed puberty, Congestive heart failure, Abnormal femur morphology, Reduced bone mineral densit... ORPHA:324
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... ORPHA:1354
Sialidosis Type 2
Inguinal hernia, Osteoporosis, Kyphosis, Short stature, Flexion contracture, Umbilical hernia ORPHA:87876
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Alpha-Mannosidosis
Inguinal hernia, Craniofacial hyperostosis, Arthritis, Scoliosis, Bowing of the long bones, Kypho... ORPHA:61
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:241530
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Hyperlordosis, Short long bone,... ORPHA:457395
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Scoliosis, Kyphosis, Osteoporosis, Joint contractur... OMIM:615381
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared me... OMIM:615349
Sandhoff Disease
Congestive heart failure, Failure to thrive, Kyphosis ORPHA:796
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Flexion contracture, Short neck, Arthrogryposis multiplex congenita, Clinoda... ORPHA:178148
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short stature, Obesity, Short toe, Brachydactyly, Keloids ORPHA:3085
Atrophoderma Vermiculata
Atrophic scars, Heart block ORPHA:79100
Ruvalcaba Syndrome
Delayed puberty, Clinodactyly of the 5th finger, Proximal placement of thumb, Inguinal hernia, Ab... ORPHA:3121
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio... ORPHA:175
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Intrauterine growth retardation, Small for gestati... OMIM:617021
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Failure to thrive, Flexion contracture, Arthrog... OMIM:232500
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Growth delay, Broad proximal phalanges of the hand, Hallux valgus ORPHA:505652
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Talipes equinovarus, Scoliosis, Kyphosis OMIM:617087
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Kyphos... ORPHA:3082
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umb... ORPHA:95716
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Postnatal growth retardation, Delayed epiphyseal ossification, Osteomalacia, Tibial bowi... ORPHA:289157
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Sinus bradycardia, Kyphosis OMIM:619482
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Scoliosis, Kyphosis, Short stature, Brachydactyly, Hip dysplasia, Short d... ORPHA:1858
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va... OMIM:610968
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Talipes equinovarus, Multiple lipomas, Lipodystrophy, Kyphosis OMIM:151800
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Stüve-Wiedemann Syndrome
Flexion contracture of finger, Intrauterine growth retardation, Sacral dimple, Scoliosis, Elbow f... ORPHA:3206
Crisponi Syndrome
Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Flexion contracture, ... ORPHA:1545
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Scoliosis, Dislocation of toes, Cardiomyopathy, Camptodac... OMIM:300280
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Increased vertebral h... ORPHA:2616
Becker Nevus Syndrome
Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Micromelia ORPHA:64755
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat... OMIM:143095
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing... OMIM:300554
19P13.12 Microdeletion Syndrome
Clinodactyly of the 5th finger, Aortic regurgitation, Sandal gap, Craniosynostosis, Finger syndac... ORPHA:254346
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, ... ORPHA:3208
Glutamine Deficiency, Congenital
Micromelia, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Joint stiffness, Fai... ORPHA:583
Arthrogryposis, Distal, Type 5
Scoliosis, Absent phalangeal crease, Congenital finger flexion contractures, Kyphosis, Bilateral ... OMIM:108145
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Abnormal atrioventricular conduction, Congestive heart failure, Osteolytic defects o... ORPHA:280365
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Severe s... ORPHA:2658
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, Kyphosi... OMIM:616294
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive, Intrauterine growth retardation, Sma... OMIM:614702
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Bowing of the long bones, Kyphosis, Lateral femoral b... OMIM:239000
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis... OMIM:166220
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... OMIM:183900
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Thin metacarpal cortices, Vertebral compression fra... OMIM:616507
Atrial Standstill 2
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial car... OMIM:615745
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... OMIM:614473
Marinesco-Sjogren Syndrome
Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Short stature, Failure to thrive, Flexio... OMIM:248800
Hurler Syndrome
Calvarial hyperostosis, Cardiomyopathy, Kyphosis, Flared iliac wing, Biconcave vertebral bodies, ... OMIM:607014
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Severe short stature, Joint... OMIM:615777
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Large iliac wing, Cardiomyopathy, Kyphosis, Proximal tapering of me... OMIM:253220
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Distal joint hypermobility, Scoliosis, Kyphosis, Failure to thrive, Slender buil... OMIM:254090
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Postnatal growth retardation, Aortic regurgitation, Joint hypermobility, Adducted thu... OMIM:616603
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Bradycardia, Pulmonary arterial hypertension, Growth delay, Failure to thrive OMIM:619272
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Scoliosis, ... ORPHA:1005
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor... ORPHA:2050
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Kyphosis, Short 3rd metacarpal, Failur... OMIM:169400
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormal tibia morphology, S... ORPHA:249
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Split hand, Kyphosis, Short stature, Obesity OMIM:618124
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Bradycardia OMIM:614498
Pediatric-Onset Graves Disease
Congestive heart failure, Craniosynostosis, Atrial fibrillation, Sinus tachycardia, Hypertension,... ORPHA:525731
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Cranial hyperostosis, Clinodactyly of the 5th finger, Abnormal di... ORPHA:2710
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Intrauterine growth retardation, Talipes... OMIM:255200
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Heart block, Cardiomyopathy ORPHA:98912
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis ORPHA:1548
X-Linked Intellectual Disability, Cabezas Type
Clinodactyly of the 5th finger, Inguinal hernia, Sandal gap, Cachexia, Scoliosis, Kyphosis, Short... ORPHA:85293
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Congenital foot contractures, Scoliosis, Prominent calcaneus, Intrauterine growth re... ORPHA:565624
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Disproportionate short-limb short stat... ORPHA:2655
Kearns-Sayre Syndrome
Short stature, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Myoc... ORPHA:732
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w... OMIM:230650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Sacral dimple, Inguinal hernia, Wide anterior fontanel, Kyphosis, Umbi... OMIM:618272
Hurler-Scheie Syndrome
Aortic regurgitation, Inguinal hernia, Scoliosis, Kyphosis, Pulmonary arterial hypertension, Umbi... OMIM:607015
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Joint stiffness, Thin bony cortex, Failure... OMIM:230600
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger,... ORPHA:1883
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Scoliosis, Kyphosis, Joint stiffness, Short stature ORPHA:816
Gm1 Gangliosidosis
Abnormal metaphysis morphology, Congestive heart failure, Abnormal diaphysis morphology, Inguinal... ORPHA:354
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Intermittent claudication, Raynaud phenomeno... OMIM:259900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:2916
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A... ORPHA:2311
Hypomelanosis Of Ito
Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly OMIM:300337
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Autosomal Recessive Spastic Paraplegia Type 53
Joint hypermobility, Failure to thrive, Kyphosis ORPHA:319199
Proximal Spinal Muscular Atrophy
Bradycardia, Scoliosis, Thoracic kyphosis, Elbow flexion contracture, Flexion contracture, Knee f... ORPHA:70
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Generalized lipodystrophy, Hyperextensibility of the finger joints, Hypertension, Ky... OMIM:616914
Clark-Baraitser syndrome
Genu valgum, Scoliosis, Kyphosis, Short palm, Obesity, Joint hypermobility, Tapered finger OMIM:300602
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Short st... OMIM:300009
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Developmental And Epileptic Encephalopathy 111
Inguinal hernia, Wide anterior fontanel, Sinus tachycardia, Hypertension, Premature ventricular c... OMIM:620504
Occipital Horn Syndrome
Large iliac wing, Kyphosis, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility,... ORPHA:198
O'Donnell-Luria-Rodan Syndrome
Tapered finger, Kyphosis OMIM:618512
Brachyolmia Type 3
Radial deviation of finger, Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Short... OMIM:113500
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Cran... ORPHA:3219
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Postnatal growth retardation, Increased adipose tissue around the neck, Loss of subcu... OMIM:248370
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sacral dimple, Sandal gap, Scoliosis, Hyperlordosis, Kyphosis, Po... OMIM:615761
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr... ORPHA:800
Wieacker-Wolff Syndrome, Female-Restricted
Rocker bottom foot, Radial deviation of the hand, Scoliosis, Limited shoulder movement, Kyphosis,... OMIM:301041
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Delayed puberty, Spina bifida occulta, Delayed menarche, ... OMIM:151100
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Bradycardia OMIM:614654
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine growth retard... OMIM:210720
Pachydermoperiostosis
Gastrointestinal hemorrhage, Abnormal cortical bone morphology, Arthritis, Scoliosis, Limitation ... ORPHA:2796
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Wieacker-Wolff Syndrome
Proximal placement of thumb, Congenital foot contractures, Scoliosis, Hyperlordosis, Kyphosis, Ca... OMIM:314580
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Scoliosis, Cardiomyopathy ORPHA:329336
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Proportionate short ... OMIM:277600
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Micromelia, Growth delay, Short palm, Toe syndactyly, Intrauterine growth re... ORPHA:238750
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Growth delay, Hand clenching, Fl... OMIM:614653
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Growth delay, Delayed proximal femoral epiphyseal ossification, Failure to thrive, U... ORPHA:90674
Frank-Ter Haar Syndrome
Kyphoscoliosis, Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of... OMIM:249420
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, Second degree ... ORPHA:369929
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Sandal gap, Kyphosis, Short stature, Brachydactyly, Joint hypermobility, Abdomin... OMIM:300354
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Lumbar hyperlordosis, Thoracic scoliosis ORPHA:171881
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umb... ORPHA:90673
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Atrophic scars, Kyphosis, Join... OMIM:617821
Marden-Walker Syndrome
Postnatal growth retardation, Inguinal hernia, Wide anterior fontanel, Scoliosis, Camptodactyly, ... OMIM:248700
Mucolipidosis Type Ii
Cardiomyopathy, Kyphosis, Umbilical hernia, Limited shoulder movement, Craniosynostosis, Telangie... ORPHA:576
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the... ORPHA:958
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Congestive heart failure, Inguinal hernia, Scoliosis, Kyphosis, Hype... OMIM:230500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Truncal obesity, Kyphosis ORPHA:2429
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Short stature, Obesity, Absent pubertal growth spurt, Hip dislocation ORPHA:464282
Flynn-Aird Syndrome
Bone cyst, Scoliosis, Cachexia, Kyphosis, Joint stiffness ORPHA:2047
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Lipodystrophy, Short neck, Hip dislocation OMIM:608776
2Q31.1 Microdeletion Syndrome
Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ... ORPHA:251014
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Wide anterior fontanel, Decreased body weight, Short stature, ... OMIM:614886
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Sc... ORPHA:140
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Osteopenia, Sacral dimple, Ventral hernia, Hammertoe, Inguinal hernia, Sandal gap... ORPHA:536532
Poland Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Kyphosis, Cone-shaped epiphysis, F... ORPHA:2911
Rett Syndrome
Prolonged QTc interval, Cachexia, Scoliosis, Kyphosis, Short stature, Short foot, Abnormal T-wave OMIM:312750
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Limited knee extens... OMIM:277590
Typical Nemaline Myopathy
Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck... ORPHA:171436
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Scoliosis, Dislocation of the femoral head, Kyphosis, Co... OMIM:619797
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Ventricular fibrillation, Obesity, Weight loss, Palpitations, Shortened PR... ORPHA:79102
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal... OMIM:607155
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Genu valgum, Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Pituitary dwarfism, Bradycardia, Growth delay, Delayed proximal femoral epiphyseal ... ORPHA:226307
Trisomy 20P
Reduced bone mineral density, Abnormal hip bone morphology, Inguinal hernia, Abnormal form of the... ORPHA:261318
3C Syndrome
Postnatal growth retardation, Abnormal hip bone morphology, Inguinal hernia, Finger syndactyly, S... ORPHA:7
Baralle-Macken Syndrome
Obesity, Tapered finger, Kyphosis OMIM:619255
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Limitation of joint mobility, Kyphosis, Micromelia, Short stature... ORPHA:93274
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave verteb... ORPHA:955
Marshall-Smith Syndrome
Kyphoscoliosis, Prominent fingertip pads, Hypertension, Kyphosis, Premature ventricular contracti... OMIM:602535
Mcdonough Syndrome
Short stature, Cachexia, Scoliosis, Kyphosis ORPHA:2471
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, ... OMIM:106300
Harrod Syndrome
Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn... ORPHA:2115
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Vertebral compression fracture, Hyperextensibility of the finger joints, Scoliosi... OMIM:309583
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Sandal gap, Bicoronal synostosis, Scoliosis, 2-3 toe syndactyly, Kyphosis, Ca... OMIM:619951
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Kleefstra Syndrome 2
Growth delay, Scoliosis, Kyphosis OMIM:617768
Distal Triplication 15Q
Large for gestational age, Scoliosis, Camptodactyly, Kyphosis, Arachnodactyly, Flexion contractur... ORPHA:314588
Emanuel Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Inguinal hernia, Scoliosis, Kyphosis, Congenital ... OMIM:609029
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Fa... ORPHA:420794
Idiopathic Juvenile Osteoporosis
Kyphosis, Osteoporosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pulmonary embolism, Gastrointestinal hemorrhage, Genu valgum, Scoliosis, Hypertension, Cerebral i... ORPHA:394
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Short stature, S... ORPHA:2522
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Camptodac... OMIM:617602
Lopes-Maciel-Rodan Syndrome
Scoliosis, Short foot, Kyphosis, Small hand OMIM:617435
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Kyphosis, Arrhythmia, Dilated cardiomyopathy, Neuropathic spinal arthropathy OMIM:615084
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Inguinal hernia, Tracheobronchomalacia, Split hand, Kyphosis, Short sta... OMIM:309900
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Arthritis,... OMIM:108300
Spondyloocular Syndrome
Osteopenia, Femur fracture, Vertebral compression fracture, Decreased body weight, Short stature,... OMIM:605822
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo... OMIM:619557
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cockayne Syndrome B
Postnatal growth retardation, Square pelvis bone, Severe failure to thrive, Hypoplastic iliac win... OMIM:133540
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Short stature, Heart block, Premature ventricular contraction ORPHA:1964
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Hyperlordosis, Kyphosis, Slender finger, ... OMIM:618443
Trisomy 13
Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Kyphosis, Ectrodac... ORPHA:3378
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Metaphyseal widening, Er... OMIM:618476
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Postaxial polydactyly, Knee flexion contracture, Thoracic scoliosis, Mitral regurgitation OMIM:603387
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Weight loss, Syncope, Abnormality of the cervical spine ORPHA:221098
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Scoliosis, Kyphosis, Short stature, Metatarsus valgus, Joint hypermobility, Tapered f... ORPHA:2479
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Kyphosis, Arrhythmia, Dilated cardiomyopathy, Neuropathic spinal arthropathy ORPHA:352447
Tetanus
Tachycardia, Stiff neck, Hypertension, Bradycardia ORPHA:3299
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Inguinal hernia, Sandal gap, Scoliosis, Kyphosis, Metatarsus adductus, Camp... ORPHA:261349
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Scoliosis, Tibia... OMIM:259770
Prader-Willi Syndrome
Osteopenia, Acromicria, Delayed puberty, Genu valgum, Radial deviation of finger, Scoliosis, Shor... OMIM:176270
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis, Short stature, Failure to thrive, Flexion contracture, Hip dysplasia, Overwe... ORPHA:500055
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Finger syndactyly, Scoliosis, Kyphosis, Hemiatrophy, Metatarsus adductus, Campto... ORPHA:2215
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Pulmonic sten... OMIM:609008
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Hypertension, Osteoporosis, Kyphosis, Truncal obesity OMIM:219080
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Metatarsus adductus, Hip dysplasia, Clinodactyly, Talipes equ... OMIM:181405
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Hypertension, Osteoporosis, Kyphosis, Truncal obesity OMIM:610475
Sialidosis Type 1
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Short stature, Hernia ORPHA:812
Coffin-Lowry Syndrome
Broad finger, Abnormal diaphysis morphology, Craniofacial hyperostosis, Abnormal form of the vert... ORPHA:192
Cohen Syndrome
Delayed puberty, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sanda... ORPHA:193
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Short stature, Hypoplastic scapulae ORPHA:79107
Fucosidosis
Lipoatrophy, Failure to thrive, Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
D-Glyceric Aciduria
Growth delay, Failure to thrive, Bradycardia OMIM:220120
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elbow flexion contracture, Kyphosis OMIM:618138
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Intrauterine growth retar... OMIM:618775
Atypical Rett Syndrome
Scoliosis, Kyphosis, Growth delay, Short foot, Small hand ORPHA:3095
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Genu valgum, Scoliosis, Elbow flexion contracture, Kyphosis, Short stature, Hip contracture, Obes... OMIM:618493
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Scoliosis, Increased body weight, Kyphosis, Osteoporosis, Short stature, Failure to t... ORPHA:398069
Alg1-Cdg
Scoliosis, Limitation of joint mobility, Cardiomyopathy, Kyphosis ORPHA:79327
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Osteoporosis, Kyphosis, Intrauterin... OMIM:617190
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Orthostatic hypotension, Hiatus hernia, Short clavicles, Li... OMIM:304150
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Postaxial hand polydactyly, Kyphosis, Brachydactyly, ... ORPHA:2075
Lateral Meningocele Syndrome
Inguinal hernia, Scoliosis, Kyphosis, Biconcave vertebral bodies, Short stature, Sclerosis of sku... OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Scolios... OMIM:618050
Lowe Oculocerebrorenal Syndrome
Rickets, Postnatal growth retardation, Genu valgum, Pathologic fracture, Scoliosis, Finger swelli... OMIM:309000
Bohring-Opitz Syndrome
Severe failure to thrive, Fixed elbow flexion, Bradycardia, Metacarpophalangeal joint contracture... ORPHA:97297
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hypermobility, Kyphosis ORPHA:1875
Refsum Disease
Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morphology ORPHA:773
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Inguinal hernia, Scoliosis, Intrauterine growt... OMIM:613658
Lateral Meningocele Syndrome
Inguinal hernia, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Scoliosis, Hyp... ORPHA:2789
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Disproportionate short stature, Rhizomelia, Wide anterior fontanel, Fem... OMIM:616482
Immunodeficiency 87 And Autoimmunity
Hypertension, Pulmonary arterial hypertension, Growth delay, Intrauterine growth retardation, Dil... OMIM:619573
Cockayne Syndrome A
Square pelvis bone, Severe postnatal growth retardation, Hypoplastic iliac wing, Hypertension, Li... OMIM:216400
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Camptodactyly, Kyphosis, Omphalocele, Broad thumb, Short phalanx of fin... OMIM:616894
Zimmermann-Laband Syndrome 2
Short stature, Short neck, Kyphosis OMIM:616455
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Kyphosis, Joint stiffness, Short stature, Failure to thrive in infancy ORPHA:702
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia,... ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Slender build OMIM:300676
Gitelman Syndrome
Delayed puberty, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segmen... ORPHA:358
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Prominent fingertip pads, Intrauterine growth retard... OMIM:610443
Cockayne Syndrome Type 2
Scarring, Scoliosis, Kyphosis, Enamel hypoplasia, Flexion contracture, Intrauterine growth retard... ORPHA:90322
Microphthalmia, Lenz Type
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Hyper... ORPHA:568
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Spondyloenchondrodysplasia
Vasculitis, Arthritis, Hypertension, Hypoplastic ilia, Kyphosis, Short stature, Short distal phal... ORPHA:1855
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Bone cyst, Scoliosis, Narrow iliac wing, Kyphosis, Short s... ORPHA:3042
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Radial deviation of finger, Talipes equinovarus, Sc... OMIM:301040
Spastic Paraplegia 53, Autosomal Recessive
Joint hypermobility, Kyphosis OMIM:614898
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ... ORPHA:280
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Inguinal hernia, Scoliosis, Kyphosis, Short stature ORPHA:261190
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Hypertension, Osteoporosis, Kyphosis, Biconcave vertebral bodies,... OMIM:219090
Mgat2-Cdg
Osteopenia, Reflex asystolic syncope, Scoliosis, Kyphosis, Failure to thrive, Brachydactyly, Arrh... ORPHA:79329
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Inguinal hernia, Finger syndactyly, Broad distal phalanx of the toes, Scolio... ORPHA:464738
Chromosome 3Q13.31 Deletion Syndrome