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
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Syngnathia
Cleft palate OMIM:119550
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... 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
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
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, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
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
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Hyaline Fibromatosis Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion contractures OMIM:228600
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Uvula, Bifid
Bifid uvula OMIM:192100
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Cleft Soft Palate
Cleft soft palate OMIM:119570
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
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Juvenile Hyaline Fibromatosis
Joint stiffness, Osteolysis, Progressive flexion contractures ORPHA:2028
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Dermatoosteolysis, Kirghizian Type
Osteolysis, Joint contracture of the hand, Flexion contracture OMIM:221810
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Mu-Heavy Chain Disease
Osteolysis, Osteoporosis ORPHA:100024
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Irritability OMIM:240800
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal sternum m... ORPHA:166016
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Gorham-Stout Disease
Osteomyelitis, Abnormal bone ossification, Osteopenia, Osteolysis involving bones of the lower li... ORPHA:73
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Sprengel Deformity
Cleft palate ORPHA:3181
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Ramon Syndrome
Osteolysis ORPHA:3019
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:1802
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Parc Syndrome
Cleft palate OMIM:600331
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Carpal osteolysis, Limitation of joint mobility, Metacarpal ... ORPHA:2774
Ollier Disease
Joint stiffness, Osteolysis ORPHA:296
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita OMIM:611369
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Tenosynovial Giant Cell Tumor
Joint stiffness, Osteolysis, Limitation of joint mobility, Localized osteoporosis ORPHA:66627
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Caffey Disease
Periosteal thickening of long tubular bones, Joint hypermobility, Calvarial hyperostosis, Cortica... OMIM:114000
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Osteomalacia, Abnormal bone structure, Osteolysis, Coarse metaphy... ORPHA:93160
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Osteolysis, Tarsal synostosis ORPHA:1657
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology,... OMIM:602196
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Infantile Myofibromatosis
Osteolysis, Bone cyst, Limitation of joint mobility ORPHA:2591
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior ORPHA:329249
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Mucopolysaccharidosis, Type Ix
Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate, Hyperextensibility at wrist... OMIM:601492
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Intellectual Developmental Disorder, X-Linked 90
High palate, Narrow chest, Bifid uvula OMIM:300850
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclerosis ORPHA:324964
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Coffin-Lowry Syndrome
High palate, Dental malocclusion, Drumstick terminal phalanges, Narrow palate, Pectus excavatum, ... OMIM:303600
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Glossoptosis, Osteoarthritis, Long philtrum, Pectus carinatum, Ab... ORPHA:166100
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Increased susceptibility to fractures, Pathologic fracture ORPHA:52430
Metatropic Dysplasia
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... ORPHA:2635
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Progressive neurologic... ORPHA:276608
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthritis, Osteolysis, C... ORPHA:371428
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Fractures of the long bones, Osteolysis, Increased susceptibility to fra... OMIM:602080
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
Arthrogryposis, Distal, Type 3
High palate, Overlapping toe, Decreased hip abduction, Pectus excavatum, Abnormal rib cage morpho... OMIM:114300
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Diaphanospondylodysostosis
Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally os... ORPHA:66637
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Osteopen... ORPHA:576283
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Orofaciodigital Syndrome Iii
Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Pos... OMIM:258850
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Memory impairment, Cognitive impairment ORPHA:369873
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Split foot, Joint contracture of the hand, Syndactyly, Bifid uvula, Cam... OMIM:603543
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Arachnodactyly, Bifid uvula, Long fingers, Joint hypermobility... OMIM:604841
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate OMIM:201550
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Grant Syndrome
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification ORPHA:2097
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... ORPHA:957
Achondrogenesis, Type Ii
Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ... OMIM:200610
Proteus Syndrome
Facial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis OMIM:176920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... OMIM:612350
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Non-midline cleft lip ORPHA:1484
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Unilateral cleft palate, Unilateral cleft lip, Joint hypermobility, Supernumera... OMIM:619122
Felty Syndrome
Osteolysis, Synovitis, Limitation of joint mobility, Arthritis ORPHA:47612
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Small hand, Short philtrum, Bifid uvula, Clinodac... OMIM:616222
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
X-Linked Intellectual Disability, Abidi Type
Cleft palate, Non-midline cleft lip ORPHA:85273
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Sapho Syndrome
Recurrent fractures, Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Enthesitis, Craniofacial... ORPHA:793
Aggressive Systemic Mastocytosis
Osteolysis, Osteoporosis, Pathologic fracture ORPHA:98850
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion OMIM:616898
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic defects of... ORPHA:90153
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... OMIM:604757
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Dens in dente, Pectus excavatum, Clinodactyly of the 5th finger, Hypodontia, 2-3 to... OMIM:263540
Pachydermoperiostosis
Osteomyelitis, Osteoporosis, Arthritis, Osteolysis, Abnormal cortical bone morphology, Limitation... ORPHA:2796
Diprosopus
Cleft palate, Non-midline cleft lip ORPHA:1681
Insulinoma
Transient global amnesia, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsul... ORPHA:97279
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Pectus carinatu... OMIM:615777
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Stuve-Wiedemann Syndrome 2
Short long bone, Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bones, S... OMIM:619751
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum OMIM:225000
Chromomycosis
Osteolysis, Ankylosis ORPHA:182
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Flexion contracture, Osteoporosis, Limited elbow movement, Progressive clavicula... OMIM:614008
Coffin-Siris Syndrome 11
High palate, Wide mouth, Small hand, Bifid uvula, Downturned corners of mouth, Esophageal atresia... OMIM:618779
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Osteomalacia, Pathologic fracture, Thin bony cortex, Abnormal bon... ORPHA:249
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Osteolysis, Acroosteolysis of distal phal... ORPHA:90154
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Short sternum OMIM:184800
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Broad ribs, Sclerotic scapulae... OMIM:224300
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Intestinal m... ORPHA:2712
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Glucocorticoid Resistance, Generalized
Hypoglycemia, Anxiety OMIM:615962
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Cardiomyopathy, Familial Hypertrophic, 4
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... OMIM:115197
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:600081
Amish Lethal Microcephaly
Osteoporosis, Decreased skull ossification, Death in infancy, Limitation of joint mobility, Cleft... ORPHA:99742
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Prominent U wa... ORPHA:358
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Asymmetry of the thorax, Increased bone mine... ORPHA:2780
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Ham... ORPHA:2752
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Cleft palate, Oral cleft OMIM:601349
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism, Cognitive impairment ORPHA:2022
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... ORPHA:1427
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... OMIM:617412
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular ... OMIM:616331
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis OMIM:617952
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Papillon-Lefèvre Syndrome
Osteolysis ORPHA:678
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Non-midline cleft lip ORPHA:2476
Cree Mental Retardation Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger syndactyly... OMIM:606851
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, C... OMIM:269250
Porphyria, Congenital Erythropoietic
Osteopenia, Osteolysis, Joint contracture of the hand, Pathologic fracture OMIM:263700
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Cleft palate ORPHA:93946
Mixed Connective Tissue Disease
Joint stiffness, Osteolysis, Arthritis ORPHA:809
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... ORPHA:181393
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Oral cleft, Cleft palate, Short mandibular rami OMIM:141400
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Cardiomyopathy, Atrioventr... OMIM:234700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Camptodactyly, Hypopla... OMIM:311450
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small hand, Short philtrum, Bifid uvula, Pyloric stenosi... ORPHA:96184
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Stickler Syndrome, Type I
Joint stiffness, Pectus excavatum, Cleft palate, Arachnodactyly, Osteoarthritis, Bifid uvula, Irr... OMIM:108300
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, High, narrow palate, Cutaneous syndactyly of toes, Bifid uvula, Sagittal craniosy... ORPHA:2872
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Accessory oral frenulum, Preaxial polydactyly, Short ti... ORPHA:2756
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
W Syndrome
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Broad uvula, Clinodactyly, Metatarsus adduc... ORPHA:2804
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Adducted thumb, Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral clef... OMIM:618622
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... OMIM:227270
Treacher Collins Syndrome 2
Cleft palate OMIM:613717
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate OMIM:246560
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Hip contracture, Osteolysis, Osteolysis involving ... ORPHA:464321
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Congenital Disorder Of Glycosylation, Type Id
High palate, Joint contracture of the hand, Flexion contracture, Adducted thumb, Bifid uvula, Lon... OMIM:601110
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Bifid uvula, Clinoda... OMIM:164220
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex ORPHA:85184
Lymphatic Malformation 5
Cleft palate OMIM:153200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Cleft palate, Barrel-shaped chest, Delayed calcaneal ossification, Bifid uvula, Pectus... OMIM:183900
Atrioventricular Septal Defect 3
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... OMIM:600309
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Tenorio Syndrome
Hypoglycemia, Anxiety, Hypoinsulinemia OMIM:616260
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Brachydactyly, Broad thumb, Esophageal atresia, Smooth philtrum OMIM:614526
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affec... OMIM:186500
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, Suicidal ideation, Anhedonia, Em... ORPHA:96369
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate ORPHA:1135
Neonatal Lupus Erythematosus
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... ORPHA:398124
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Long philtrum, Sandal ga... ORPHA:178303
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis ORPHA:464329
Myhre Syndrome
Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Thin vermilion border, Gingival cl... ORPHA:2588
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Irritability, Ketotic hypoglycemia ORPHA:2089
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
H Syndrome
Recurrent fractures, Osteolysis, Camptodactyly ORPHA:168569
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis OMIM:619817
Buratti-Harel Syndrome
High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Bifid uvula, Broad hal... OMIM:619314
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous r... OMIM:117650
Moebius Syndrome
High palate, Abnormality of the dentition, Brachydactyly, Bifid uvula, Short phalanx of finger, S... OMIM:157900
Aase-Smith Syndrome I
Death in infancy, Cleft palate, Open mouth OMIM:147800
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Abnormal atrioventricular conduction, Atrioventricular block OMIM:118301
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate OMIM:231060
Hsd10 Mitochondrial Disease
Hypoglycemia, Aggressive behavior, Progressive neurologic deterioration OMIM:300438
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Prolonged QRS complex, Dilated cardiomyopathy, Cardiac conduction a... ORPHA:273
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn... ORPHA:2658
Erdheim-Chester Disease
Osteomyelitis, Osteolysis, Increased bone mineral density ORPHA:35687
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Joint hyperfl... ORPHA:2484
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Cognitive impairment ORPHA:364
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... ORPHA:280356
Meckel Syndrome, Type 10
Cleft palate, Postaxial polydactyly, Bifid uvula, Camptodactyly, Postaxial hand polydactyly, Post... OMIM:614175
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Anterior op... ORPHA:3473
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Tracheomalacia, Bifid uvula, Triphalangeal thumb, Short thumb OMIM:612561
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:264700
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Hydrolethalus
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate ORPHA:2189
Encephalocraniocutaneous Lipomatosis
Osteolysis, Bone cyst, Craniofacial hyperostosis ORPHA:2396
Chikungunya
Joint stiffness, Periostitis, Arthritis, Osteolysis, Enthesitis, Stiff interphalangeal joints, Sy... ORPHA:324625
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short phi... OMIM:608572
Alpha-Mannosidosis, Infantile Form
Joint stiffness, Cortical thickening of long bone diaphyses, Craniosynostosis, Osteopenia, Osteol... ORPHA:309282
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Dea... OMIM:612938
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... OMIM:618106
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Osteolysis, Bone cyst, Flexion contracture ORPHA:3042
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Neonatal death, Death in infan... OMIM:613390
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion OMIM:612292
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Solitary median maxillary central incisor, High palate, Cleft palate OMIM:602418
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Narrow mouth, Bifid uvula, Long fingers, Scapular winging ORPHA:169186
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Long hallux, Pectus excavatum, High, narrow palate, Cleft palate, Hyperexten... OMIM:309583
Marshall Syndrome
Thick upper lip vermilion, Wide tufts of distal phalanges, Clinodactyly of the 5th finger, Macrod... OMIM:154780
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... ORPHA:355
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...