Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycogen synthase kinase 3 beta
Synonyms:
8430431H08Rik,  7330414F15Rik,  GSK-3beta,  GSK3,  GSK-3

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 Gsk3b 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 Gsk3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Syngnathia
Cleft palate OMIM:119550
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis OMIM:228600
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
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
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Pierre Robin Syndrome
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:261800
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability OMIM:240800
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis... ORPHA:73
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Small epiphyses, Delayed... ORPHA:166016
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Ramon Syndrome
Osteolysis ORPHA:3019
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:1802
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Talo-Patello-Scaphoid Osteolysis
Osteolysis of scaphoids, Osteolysis of talus, Osteolysis of patellae, Synovitis ORPHA:50809
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, ... ORPHA:2774
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Ollier Disease
Joint stiffness, Osteolysis ORPHA:296
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita OMIM:611369
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Uvula, Bifid
Bifid uvula OMIM:192100
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Sprengel Deformity
Cleft palate ORPHA:3181
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Parc Syndrome
Cleft palate OMIM:600331
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Cleft soft palate, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent... ORPHA:93160
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cleft Soft Palate
Cleft soft palate OMIM:119570
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Limitation of joint mobility, Joint stiffness, Joint hemorrhage, Osteolysis ORPHA:66627
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis ORPHA:1657
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Infantile Myofibromatosis
Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pierre-Robin ... OMIM:602196
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Arthritis, Osteolysis, Craniofacial osteosclerosis, Osteomyelitis ORPHA:324964
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Sclerosis of skull base, Osteolysis, Inc... OMIM:602080
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Calvarial hyperostosis, Osteolysis, Increased susceptibility to fractures ORPHA:52430
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Cognitive impairment, Attention deficit hyperactivity disord... ORPHA:369873
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Cleft... ORPHA:66637
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Cleft palate, O... ORPHA:166100
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Bifid sternum, Hy... OMIM:303600
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Osteomyelitis OMIM:612852
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... ORPHA:2635
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Progressive neurologic deterior... ORPHA:276608
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, Neonatal death,... OMIM:618393
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H... ORPHA:552
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Hyperextensibility at elbow, Synovitis, Bifid uvula, Wrist hypermobility, Su... OMIM:601492
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex OMIM:619795
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Desminopathy
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ... OMIM:181350
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Short sternum, Bi... OMIM:258850
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Progressive clavicular acroosteolysis, Osteolytic defects of the distal p... OMIM:614008
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Decreased hip abduction, Congenital hip dislocation, Camptodactyly... OMIM:114300
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Aggressive Systemic Mastocytosis
Pathologic fracture, Osteoporosis, Osteolysis ORPHA:98850
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Hypodontia, Glossoptosis, Tapered finger, Camptodactyl... ORPHA:3201
Felty Syndrome
Arthritis, Limitation of joint mobility, Osteolysis, Synovitis ORPHA:47612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Acroosteoly... ORPHA:90153
Anencephaly 2
Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Pachydermoperiostosis
Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly... ORPHA:2796
Stuve-Wiedemann Syndrome 2
Stillbirth, Short long bone, Death in adolescence, Bowing of the long bones, Camptodactyly, Neona... OMIM:619751
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Fibrous Dysplasia Of Bone
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Osteolysis, Osteoma... ORPHA:249
Sapho Syndrome
Hyperostosis, Arthritis, Synovitis, Enthesitis, Osteolysis, Craniofacial osteosclerosis, Recurren... ORPHA:793
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Long philtrum, Calvarial osteosclerosis, Cleft soft p... OMIM:616331
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Postaxial hand poly... OMIM:620107
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Pectus excavatum, Supernumerary ribs, Unilateral cleft... OMIM:619122
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn... OMIM:604757
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Cleft soft palate, Triangular mouth, Gingival overgrowth, Prominent fingertip pads, A... OMIM:618529
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Dysosteosclerosis
Short ribs, Broad femoral neck, Broad ribs, Clavicular sclerosis, Abnormal metaphyseal trabeculat... OMIM:224300
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... ORPHA:358
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... OMIM:117650
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... OMIM:300257
Insulinoma
Hyperinsulinemia, Transient global amnesia, Neoplasm of the adrenal gland, Primary hyperparathyro... ORPHA:97279
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la... ORPHA:179494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Cleft soft palate, Short 4th finger, Ol... ORPHA:2756
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Microphthalmia, Syndromic 12
Intestinal malrotation, Cleft palate, Neonatal death OMIM:615524
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Schneckenbecken Dysplasia
Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short long bone, Flat acetabula... OMIM:269250
Cree Mental Retardation Syndrome
Rocker bottom foot, Cleft soft palate, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hyp... OMIM:606851
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex OMIM:617952
Diprosopus
Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mixed Connective Tissue Disease
Joint stiffness, Arthritis, Osteolysis ORPHA:809
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short l... OMIM:200610
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:600081
Papillon-Lefèvre Syndrome
Osteolysis ORPHA:678
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Solitary medi... ORPHA:2712
Amish Lethal Microcephaly
Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Deat... ORPHA:99742
Gaucher Disease Type 1
Osteopenia, Osteoporosis, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Smooth philtrum OMIM:614526
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, High, narrow palate, Osteopetrosis, Asymmetry of the thorax, Dela... ORPHA:2780
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Abnormality of the dentition, Pectus excavatum, Ir... ORPHA:2752
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Tenorio Syndrome
Emotional lability, Hypoglycemia, Hypoinsulinemia OMIM:616260
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Narrow mouth, Neonatal deat... OMIM:227270
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog... OMIM:259700
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia ORPHA:2089
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis ORPHA:464329
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Wide anterior fontanel, Thin bony cortex, Osteopenia ORPHA:85184
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Recurrent ... ORPHA:276556
Porphyria, Congenital Erythropoietic
Osteopenia, Pathologic fracture, Osteolysis, Joint contracture of the hand OMIM:263700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... OMIM:241530
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis ORPHA:35687
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe s... OMIM:614701
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate ORPHA:2476
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
H Syndrome
Camptodactyly, Recurrent fractures, Osteolysis ORPHA:168569
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Arthritis, Pectus excavatum, Joint stiffness, Arachnodacty... OMIM:108300
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Neonatal death, Everted lower lip vermilion, Death in infancy OMIM:242500
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
W Syndrome
Hypoplasia of the ulna, Broad uvula, Camptodactyly, Metatarsus adductus, Upper lip pit, Radial bo... ORPHA:2804
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Cleft soft palate, Pectus carinatum, Bilateral coxa valga, High palat... OMIM:615582
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Fle... ORPHA:88630
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Prominent fingertip pads, ... OMIM:617412
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... ORPHA:273
Encephalocraniocutaneous Lipomatosis
Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Epiphyseal stippling, High palate, Stippled calcification proximal humeral epiphyses,... OMIM:222765
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Cortical thickening of long bone diaphyses, Joint stiffness, Jo... ORPHA:309282
Melnick-Needles Syndrome
Joint hypermobility, Osteolytic defects of the phalanges of the hand, Craniofacial hyperostosis, ... ORPHA:2484
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Cognitive impairment ORPHA:364
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Clinodactyly of the 5th finger, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia ORPHA:2126
Lymphatic Malformation 5
Cleft palate OMIM:153200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bone cyst, Hip contracture, Flexion contracture, Osteolysis ORPHA:3042
Chikungunya
Periostitis, Arthritis, Synovitis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,... ORPHA:2588
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Bifid uvula, 3-4 finger cutaneous syndactyly, Submuco... OMIM:164220
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Cryptococcosis
Osteomyelitis, Osteolysis ORPHA:1546
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Incontinentia Pigmenti
Camptodactyly of finger, Eosinophilia, Spina bifida occulta, Osteolysis ORPHA:464
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Abnormality of the dentition, Campto... ORPHA:178303
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hajdu-Cheney Syndrome
Osteopenia, Decreased skull ossification, Osteoporosis, Coarse metaphyseal trabecularization, Joi... ORPHA:955
Momo Syndrome
Abnormal bone ossification, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing,... ORPHA:2563
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ... ORPHA:2658
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:264700
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:277440
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Hepatoerythropoietic Porphyria
Osteopenia, Osteoporosis, Osteolysis ORPHA:95159
Buratti-Harel Syndrome
Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu... OMIM:619314
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... OMIM:259600
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Meckel diverticulum, High palate, Glossoptosis, Cut... OMIM:311900
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula, Branchial cyst OMIM:609166
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Occipital Horn Syndrome
Rickets, Osteopenia, Synostosis of joints, Osteoporosis, Osteomalacia, Joint hypermobility, Osteo... ORPHA:198
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acroosteolysis, Ac... OMIM:608612
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Gaucher Disease
Osteopenia, Increased bone mineral density, Abnormal bone structure, Joint stiffness, Osteomyelit... ORPHA:355
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Hydrolethalus
Gingival cleft, Postaxial hand polydactyly, Bifid uvula, Cleft palate, Unilateral cleft lip, Subm... ORPHA:2189
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Narrow mouth, Missing ribs, Forearm undergrowth, Humeroradial synosto... OMIM:251230
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Smooth philtrum... OMIM:157980
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Progressive psychomotor deterioration, Cognitive impairment ORPHA:363400
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block ORPHA:392
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo... ORPHA:98855
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Mosaic Variegated Aneuploidy Syndrome
Osteolysis ORPHA:1052
Chime Syndrome
Osteolysis ORPHA:3474
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98853
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Psychomotor deterioration, Hypergonadotropic hypogonadism ORPHA:79237
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon... OMIM:609638
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, F... OMIM:211350
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... ORPHA:26793
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Osteolytic defects of the distal phalanges of the hand, Elbow flexion contracture, Ca... OMIM:248370
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Joint hyperm... OMIM:618106
Coccidioidomycosis
Eosinophilia, Osteomyelitis, Arthritis, Osteolysis ORPHA:228123
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98863
Native American Myopathy
High palate, Camptodactyly, Congenital contracture, Downturned corners of mouth, Bifid uvula, Cle... ORPHA:168572
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Intellectual Developmental Disorder, Autosomal Dominant 73
Everted lower lip vermilion, Prominent interphalangeal joints, Broad philtrum, Joint hypermobilit... OMIM:620450
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... OMIM:108720
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex,... ORPHA:289157
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly... ORPHA:1071
Congenital Erythropoietic Porphyria
Osteopenia, Osteoporosis, Osteolysis ORPHA:79277
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob... ORPHA:3206
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Oligo... OMIM:608670
Ear-Patella-Short Stature Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Narrow ... ORPHA:2554
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Sandal gap, Prominent fingertip pads, High palate, Smooth philtrum, Long phi... OMIM:612863
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Thin bony cortex OMIM:230600
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Cleft hard palate, Clinodactyly of the 5th finger, Delayed erupti... OMIM:300990
Meier-Gorlin Syndrome 5
Slender long bone, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphysis, Pate... OMIM:613805
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Esophageal atresia, Pectus excavatum, Tracheoesophageal fistula, Spreng... OMIM:619227
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Submuco... ORPHA:69085
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, Second degree ... ORPHA:369929
Zygomycosis
Osteolysis ORPHA:73263
Scarf Syndrome
Long philtrum, Pectus carinatum, Short sternum, Enamel hypoplasia, Joint hypermobility, Craniosyn... ORPHA:3134
Holt-Oram Syndrome