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
Torus Palatinus And Torus Mandibularis
Torus palatinus, Abnormality of the mouth OMIM:189700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Acroosteolysis
Osteolytic defects of the phalanges of the toes, Osteolytic defects of the phalanges of the hand OMIM:102400
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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
Diabetes mellitus, Type I 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
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology 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 Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Uvula, Bifid
Bifid uvula OMIM:192100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Cleft Soft Palate
Cleft soft palate OMIM:119570
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Bifid uvula OMIM:258320
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Osteolysis OMIM:221810
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Cleft Palate, Isolated
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia OMIM:240800
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:73
Nathalie Syndrome
Abnormal EKG OMIM:255990
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Epiphyseal dysplasia, Delayed... ORPHA:166016
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Nemaline Myopathy 9
Cleft palate, High palate OMIM:615731
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
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
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... ORPHA:2669
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Ramon Syndrome
Osteolysis ORPHA:3019
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition OMIM:216300
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Parc Syndrome
Cleft palate OMIM:600331
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... OMIM:256200
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Shoulder flexion contracture, Rocker bottom foot, Adducted thumb, Hip ... OMIM:619110
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... ORPHA:2774
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Ollier Disease
Joint stiffness, Osteolysis ORPHA:296
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita OMIM:611369
Tenosynovial Giant Cell Tumor
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis ORPHA:66627
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Cleft palate, Glossoptosis ORPHA:3104
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Non-midline cleft lip, Submucous cleft of soft and hard palate ORPHA:1991
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecularization, Recurrent... ORPHA:93160
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... OMIM:226440
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis ORPHA:1657
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Metacarpal osteolysis, Osteolytic defects... OMIM:259610
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis OMIM:602080
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Infantile Myofibromatosis
Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Narrow chest OMIM:300850
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia ORPHA:329249
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Hyperostosis, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis ORPHA:324964
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Joint hypermobility, Hypoplastic distal se... OMIM:602196
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Frank-Ter Haar Syndrome
Joint stiffness, Camptodactyly of finger, Osteolysis ORPHA:137834
Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate, Drooling ORPHA:209908
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Thin upper lip vermilion ORPHA:2015
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Metaphyseal dysplasia, Short iliac bones, Irregular acetabular roof, C... ORPHA:93316
Schneckenbecken Dysplasia
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... OMIM:269250
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Abnormal metacarpal morphology, Pectus carinatum, Long philtrum, ... ORPHA:166100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis, Pathologic fracture ORPHA:52430
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... ORPHA:2635
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Coffin-Lowry Syndrome
Widely spaced teeth, Hypodontia, High palate, Rectal prolapse, Pectus excavatum, Pectus carinatum... OMIM:303600
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... OMIM:618658
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Sh... OMIM:258850
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Pectus excavatum, High palate, Cleft palate, Distal arthrogryposis, ... OMIM:114300
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... ORPHA:371428
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Satb2-Associated Syndrome Due To A Pathogenic Variant
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Broad thumb, Drooling,... ORPHA:576283
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrioventricular block, Atrial arrhythmia OMIM:310300
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Cleft palate, Lip pit ORPHA:1072
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, Everted lower lip vermilion OMIM:616898
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Diaphanospondylodysostosis
Cleft palate, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and ... ORPHA:66637
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... OMIM:174300
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:324575
Isolated Osteopoikilosis
Cleft palate, Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of fo... ORPHA:166119
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Osteolysis OMIM:612852
Adducted Thumbs Syndrome
Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate OMIM:201550
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Short foot, Short distal phalanx o... ORPHA:3201
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Pierre-Robin sequence, Long fingers, Bifid uvula, Arachnodacty... OMIM:604841
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Limb-Mammary Syndrome
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Joint contracture of the hand, Split hand, ... OMIM:603543
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Obesity Due To Sim1 Deficiency
Glucose intolerance, Memory impairment, Hyperinsulinemia, Cognitive impairment ORPHA:369873
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Grant Syndrome
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility ORPHA:2097
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Achondrogenesis, Type Ii
Horizontal ribs, Cleft palate, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, ... OMIM:200610
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Acropectorovertebral Dysplasia
Tarsal synostosis, High, narrow palate, Pectus excavatum, Cleft palate, Triphalangeal thumb, Syno... ORPHA:957
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Facial hyperostosis OMIM:176920
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Lytic defects of humeral diaphy... OMIM:601376
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... ORPHA:98909
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Flat capital femoral epiphysis, Tapered finger, Bifid uvula, Delayed eru... OMIM:612350
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Wide mouth, Microdontia, Cone-shaped epiphysis, Macroglossia, A... OMIM:266920
Temple Syndrome
High palate, Cleft palate, Short philtrum, Small hand, Bifid uvula, Joint hypermobility, Short fo... OMIM:616222
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Long philtrum, Cleft soft palate, Broad thumb, Gingival overgrowth, Partial dupl... OMIM:616331
Felty Syndrome
Arthritis, Synovitis, Limitation of joint mobility, Osteolysis ORPHA:47612
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Osteolysis ORPHA:100026
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Joint hypermobility, Unilateral cleft lip, Unilateral cleft palate, Supernumera... OMIM:619122
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Sapho Syndrome
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... ORPHA:793
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Rosselli-Gulienetti Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality of the philtrum, Anodontia OMIM:225000
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula ORPHA:2736
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Aggressive Systemic Mastocytosis
Osteoporosis, Osteolysis, Pathologic fracture ORPHA:98850
Craniosynostosis 2
Triphalangeal thumb, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Bicoronal synostos... OMIM:604757
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Hypodontia, Dens in dente, 2-3 toe syndactyly, Short middle ph... OMIM:263540
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... ORPHA:249
Coffin-Siris Syndrome 11
High palate, Wide mouth, Cleft soft palate, Small hand, Esophageal atresia, Bifid uvula, Downturn... OMIM:618779
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Anxiety, Hyperinsulinemic hypoglycemia, F... ORPHA:97279
Pachydermoperiostosis
Osteoporosis, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Limitation of joint mo... ORPHA:2796
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Cleft palate, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Sho... OMIM:615777
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... OMIM:614669
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis OMIM:184800
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Bifid uvula ORPHA:506353
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Dysosteosclerosis
Oligodontia, Short ribs, Delayed eruption of teeth, Progressive bowing of long bones, Abnormal me... OMIM:224300
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Cleft palate, Pierre-Robin sequence OMIM:184840
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Oculofaciocardiodental Syndrome
Abnormal palate morphology, 2-3 toe syndactyly, Cleft palate, Oligodontia, Long philtrum, Hammert... ORPHA:2712
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Median cleft lip DECIPHER:46
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... OMIM:614008
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Asymmetry of the thorax, Osteopetrosis, Bifid uvula, Delayed e... ORPHA:2780
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:600081
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limitation of jo... ORPHA:99742
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... OMIM:186500
Orofaciodigital Syndrome Type 3
Irregular dentition, Pectus excavatum, Hamartoma of tongue, Bifid uvula, Short sternum, Thoracic ... ORPHA:2752
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Oral cleft, Widely-spaced maxillary central incisors OMIM:601349
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Pectus excavatum, Rocker bottom foot, Cleft soft palate, Aplasia/Hyp... OMIM:606851
Endocardial Fibroelastosis
Cognitive impairment, Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Tibial bowing, Fibular bowing, Abnormally ossified vertebrae, Osteoarthritis, Epiph... ORPHA:1427
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Cleft palate, Ectopic anus ORPHA:2476
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... OMIM:617412
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity OMIM:617952
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Cleft palate, Narrow mouth ORPHA:93946
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Papillon-Lefèvre Syndrome
Osteolysis ORPHA:678
Mixed Connective Tissue Disease
Joint stiffness, Arthritis, Osteolysis ORPHA:809
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Porphyria, Congenital Erythropoietic
Osteolysis, Joint contracture of the hand, Osteopenia, Pathologic fracture OMIM:263700
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Oral cleft OMIM:141400
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Long philtrum, Cleft soft palate, Metatarsal synostosis, Poly... ORPHA:2756
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Sagittal craniosynostosis, Slender finger, Broad philtrum, Cont... ORPHA:2872
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Small hand, Bifid uvula, Joint hyper... ORPHA:96184
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Smooth philtrum, Cleft palate, Pectus carinatum, Long philtrum, Velopharyngea... OMIM:614701
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Joint contracture of the hand, R... OMIM:311450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Bifid uvula, Arachnodactyly, Abnormality o... OMIM:108300
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sho... OMIM:227270
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... OMIM:262600
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
W Syndrome
Metatarsus adductus, Radial bowing, Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxill... ORPHA:2804
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Treacher Collins Syndrome 2
Cleft palate OMIM:613717
Split-Hand/Foot Malformation 3
High palate, Cleft palate, Narrow mouth OMIM:246560
Hepatoportal Sclerosis
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... ORPHA:64743
Lymphatic Malformation 5
Cleft palate OMIM:153200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Death in infancy, Short philtrum, Rocker bottom foot, Adducted thumb, Thin vermi... OMIM:618622
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Adducted thumb, Long fingers, Bifid uvula, Clinodactyly of the 5th ... OMIM:601110
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Pectus carinatum, Bifid uvula, Delayed calcaneal ossificatio... OMIM:183900
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Schilbach-Rott Syndrome
Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Clinoda... OMIM:164220
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... OMIM:234700
Burn-Mckeown Syndrome
2-3 toe syndactyly, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, Bifid u... OMIM:608572
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... OMIM:259700
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia, Broad thumb, Brachydactyly OMIM:614526
Moebius Syndrome
High palate, Lower limb undergrowth, Abnormality of pelvic girdle bone morphology, Bifid uvula, A... OMIM:157900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:241530
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Tooth agenesis ORPHA:1135
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, High palate, Long philtrum, Cleft soft palate, Elbow flexion contracture, Co... OMIM:117650
Tenorio Syndrome
Anxiety, Hypoinsulinemia, Hypoglycemia OMIM:616260
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Cleft palate, Oligodontia of primary teeth ORPHA:2010
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis ORPHA:77261
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate OMIM:231060
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis ORPHA:464329
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Abnormality of epiphysis morphology, Gingival cleft, Thin ... ORPHA:2588
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Early-Onset Schizophrenia
Unhappy demeanor, Suicidal ideation, Cognitive impairment, Irritability, Anhedonia, Emotional lab... ORPHA:96369
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality of the philtrum, Anodontia OMIM:225060
Aase-Smith Syndrome I
Death in infancy, Cleft palate, Open mouth OMIM:147800
Hsd10 Mitochondrial Disease
Aggressive behavior, Hypoglycemia, Progressive neurologic deterioration OMIM:300438
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
8Q22.1 Microdeletion Syndrome
Long philtrum, Craniosynostosis, Finger syndactyly, Sandal gap, Camptodactyly of finger, Limitati... ORPHA:178303
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
H Syndrome
Recurrent fractures, Camptodactyly, Osteolysis ORPHA:168569
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, High palate, Cleft palate, Pierre-Robin sequence, Fibular hypoplasia, B... OMIM:268305
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... ORPHA:273
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Pai Syndrome
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology ORPHA:1993
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Broad hallux, Broad thumb, Clinodactyly o... OMIM:619314
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Abnormal atrioventricular conduction OMIM:118230
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal dental enamel morpholog... ORPHA:2658
Zimmermann-Laband Syndrome
Hallux valgus, Hypodontia, High palate, Cleft palate, Wide mouth, Overtubulated long bones, Macro... ORPHA:3473
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Birk-Barel Syndrome
High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate OMIM:612292
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Erdheim-Chester Disease
Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hypoglycemia ORPHA:364
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Diamond-Blackfan Anemia 6
Cleft palate, Triphalangeal thumb, Cleft upper lip, Bifid uvula, Short thumb, Tracheomalacia OMIM:612561
Hydrolethalus
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate ORPHA:2189
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Melnick-Needles Syndrome
Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic defects of the phalanges... ORPHA:2484
Chikungunya
Synovitis, Periostitis, Arthritis, Osteolysis, Joint stiffness, Stiff interphalangeal joints, Ent... ORPHA:324625
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Encephalocraniocutaneous Lipomatosis
Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:264700
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Solitary median maxillary central incisor, Cleft palate OMIM:602418
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Abnormal bone ossificatio... ORPHA:2563
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Joint laxity, Craniosynostosis, Osteopenia, Joint sti... ORPHA:309282
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Long fingers, Bifid uvula, Narrow mouth, Scapular winging ORPHA:169186
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:277440
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bone cyst, Hip contracture, Flexion contracture, Osteolysis ORPHA:3042
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thick lower lip vermilion, High, narrow palate, Pectus excavatum, Smooth philtrum, Cleft palate, ... OMIM:309583
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular conduction OMIM:118301
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... OMIM:300009
Gaucher Disease
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... ORPHA:355
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Cleft palate, Short clavicles, Pectus carinatum, Bowing of the long bones, Craniosynostosis, Join... OMIM:130070
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone st... OMIM:215140
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Temple Syndrome
Clinodactyly of the 5th finger, Small hand, Bifid uvula, Short foot ORPHA:254516
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Cryptococcosis
Osteolysis, Osteomyelitis ORPHA:1546
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:263455
Tarp Syndrome
Pectus excavatum, High palate, Cleft palate, Postaxial polydactyly, Tongue nodules, Glossoptosis,... OMIM:311900
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884