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Gene: Suco MGI:2138346

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Gene Summary

Name:
SUN domain containing ossification factor
Synonyms:
osteopotentia,  Opt,  AI848100

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Sucoem1(IMPC)Bay HET   Early adult 3.90×10-05
preweaning lethality, complete penetrance Sucoem1(IMPC)Bay HOM   Early adult 0.00

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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.

Eye Morphology

VIP of left fundus

15 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right eye

15 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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Human diseases caused by Suco 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 Suco by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Avascular necrosis, Abnormality of the fifth metatarsal... ORPHA:564003
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Osteogenesis Imperfecta, Type Viii
Wide anterior fontanel, Recurrent fractures, Femoral retroversion, Short metacarpal, Radial bowin... OMIM:610915
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures, Bone pain ORPHA:57782
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Complete duplication of the dis... ORPHA:1879
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... OMIM:130060
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Broad-based gait, Osteopenia, Inability to walk, Recurrent fractures OMIM:619884
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... ORPHA:970
Osteogenesis Imperfecta, Type Xxii
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Pseudoarthrosi... OMIM:619795
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short foot, Short stature, Abnormal cortical bone morphology, Limitation ... ORPHA:166277
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... ORPHA:1802
Grant Syndrome
Joint dislocation, Short stature, Abnormal cortical bone morphology, Abnormality of the glenoid f... ORPHA:2097
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Isosexual precocious puberty, Increased susceptibility to fractures, Short s... ORPHA:2788
Monosomy 5P
Finger syndactyly, Small hand, Recurrent fractures, Short stature, Joint hyperflexibility, Abnorm... ORPHA:281
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Difficulty walking, Fibular b... OMIM:241530
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Hypophosphate... OMIM:600081
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Post... ORPHA:289157
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Knee pain, Metaphyseal irregula... OMIM:600785
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Dysplastic Cortical Hyperostosis
Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, A... ORPHA:2204
Pyle Disease
Thin bony cortex, Genu valgum, Limited elbow extension, Cubitus valgus, Metaphyseal dysplasia, Me... OMIM:265900
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Fibu... OMIM:264700
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Spastic gait, Gait disturbance, Increased spinal bone density, Bone pain ORPHA:329475
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Cranio-Osteoarthropathy
Abnormality of the knee, Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormal... ORPHA:1525
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Fibu... OMIM:277440
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Paresthesia, Short stature, Ataxia, Intention tremor, Dysmetria, Hypogly... ORPHA:48431
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Increased susceptibility to fractures, Anemia, Metaphyseal cupping... OMIM:241500
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Short stature, Osteomalacia, Hyp... ORPHA:93160
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Short stature, Absence of secondary sex characteristics, Increased circulati... ORPHA:2410
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased susceptibility to fractures, Abnormal long bone morphology, Urinary bladder sphincter d... ORPHA:52430
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Familial Expansile Osteolysis
Thin bony cortex, Hydroxyprolinuria, Osteolysis, Pathologic fracture, Bowing of the long bones, B... OMIM:174810
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Pathologic fracture, Gait disturbance, Osteopenia, Bone cyst OMIM:618193
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Epiphyseal streaking, Delayed closure of the anterior font... OMIM:604922
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Gorham-Stout Disease
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Torticollis, Osteolysis in... ORPHA:73
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short stature, Abnormality of the elbow, Slender long bone, Abnormal cortica... ORPHA:1486
Osteogenesis Imperfecta, Type V
Recurrent fractures, Hyperextensibility of the finger joints, Anterior radial head dislocation, S... OMIM:610967
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... OMIM:300554
Albers-Schönberg Osteopetrosis
Anemia, Avascular necrosis, Osteomyelitis, Recurrent fractures, Genu valgum, Short stature, Joint... ORPHA:53
Buschke-Ollendorff Syndrome
Flexion contracture, Renal insufficiency, Recurrent fractures, Short stature, Cutaneous finger sy... ORPHA:1306
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Bowing of limbs due to multiple fractures, Disproportionate short-limb short stature, Multiple pr... OMIM:259410
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Erlenmeyer fla... ORPHA:210110
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Vesicoureteral reflux... ORPHA:2484
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hypertrophic cardiomyopathy, Delayed puberty, Hypoglycemia, Osteopenia, Hyperlipid... ORPHA:369
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Dent Disease 1
Thin bony cortex, Aminoaciduria, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... OMIM:300009
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Nephronophthisis, Genu recurvatum, Polycystic kidney ... OMIM:184260
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis, Wormian bones ORPHA:2787
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Protrusio acetabuli, Bowing of limbs due to multiple fractures, ... OMIM:259420
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Short stature, Hyp... ORPHA:157215
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glycerol Kinase Deficiency
Short stature, Adrenal insufficiency, Adrenocortical hypoplasia, Pathologic fracture, Increased u... OMIM:307030
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... ORPHA:3344
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Short stature, Toe syndactyly, Clinod... ORPHA:3409
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... OMIM:166260
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
2-3 toe syndactyly, Recurrent fractures, Delayed skeletal maturation, Joint hyperflexibility, Ost... ORPHA:2324
Bruck Syndrome 2
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu... OMIM:609220
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Accelerated skeletal maturation, Respiratory distress, ... ORPHA:1423
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Caffey Disease
Respiratory insufficiency, Increased circulating antibody level, Cortical thickening of long bone... ORPHA:1310
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Premature thelarche, Sclerotic cranial sutures, Arthropath... ORPHA:371428
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Juvenile Paget Disease
Hyperuricemia, Recurrent fractures, Short stature, Coarse metaphyseal trabecularization, Hyperten... ORPHA:2801
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Rickets, C... OMIM:146300
Osteogenesis Imperfecta, Type Xiv
Increased susceptibility to fractures, Recurrent fractures, Short stature, Femoral bowing, Osteop... OMIM:615066
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Paresthesia, Abnormal trabecular bone morphology, Hypop... ORPHA:75508
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Pachydermoperiostosis
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Avascular necrosis, Small hand, Arthritis, Abnor... ORPHA:2796
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Short stature, Abnormal cortical bone morphology, Unilateral renal agenesi... ORPHA:2512
Post-Traumatic Pituitary Deficiency
Hypotension, Decreased response to growth hormone stimulation test, Osteoporosis of vertebrae, De... ORPHA:95619
Solitary Bone Cyst
Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ... ORPHA:83468
Hypophosphatasia
Respiratory insufficiency, Anemia, Recurrent fractures, Short stature, Emphysema, Large fontanell... ORPHA:436
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Cutaneous abscess, Joint hypermobility, Increased circulating IgE level, Rec... OMIM:147060
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Respiratory insufficiency, Pulmonary insufficiency, Recurrent fractures, Con... OMIM:166210
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance,... OMIM:610947
Fibrous Dysplasia Of Bone
Thin bony cortex, Hyperpituitarism, Osteolysis, Difficulty walking, Fibrous dysplasia of the bone... ORPHA:249
Bruck Syndrome
Respiratory insufficiency, Recurrent fractures, Short stature, Pterygium, Arthrogryposis multiple... ORPHA:2771
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Rhizomelia, Joint hypermobility, Bowing of the legs, Severe short stature, M... OMIM:301014
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Short lower limbs, Multiple prena... OMIM:259440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Joint ... ORPHA:668
Osteogenesis Imperfecta, Type Xii
Recurrent fractures, Hyperextensibility of the finger joints, Short stature, Bowing of the legs, ... OMIM:613849
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarp... OMIM:259600
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Pycnodysostosis
Delayed cranial suture closure, Increased bone mineral density, Hepatosplenomegaly, Hypoplastic i... ORPHA:763
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Short stature, Clinodactyly, Clinodactyly of the 5th finger, Insulin resistance, Se... ORPHA:73272
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Short sta... OMIM:619489
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Short stature, Pancytopenia, Tachypnea, Apnea, Hy... OMIM:606054
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Broad femoral neck, Coxa valga, Wide anterior fontanel, Short tubular bones of ... ORPHA:85184
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Increased susceptibility to fractures, Radioulnar dislocation, Hypoplastic ilia, Short stature, A... ORPHA:93359
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Variant Abeta2M Amyloidosis
Knee pain, Reduced left ventricular ejection fraction, Wrist pain, Pathologic fracture, Arthralgi... ORPHA:314652
Dent Disease
Thin bony cortex, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Sparse bon... ORPHA:1652
Mycetoma
Abnormality of the knee, Osteomyelitis, Abnormal forearm bone morphology, Painless fractures due ... ORPHA:2583
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Classic Galactosemia
Gait imbalance, Postural tremor, Abnormal erythrocyte enzyme level, Gait disturbance, Ataxia, Del... ORPHA:79239
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad t... OMIM:619638
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Anemia, Gastrointestinal telangiectasia, Genu valgum, Meta... OMIM:612199
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... ORPHA:1303
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Thrombocytopenia, Spleno... ORPHA:77259
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, In... ORPHA:357058
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatosplenomegaly, Hypop... ORPHA:231222
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Hypothyroidism, Flexion contracture, Elbow flexion contracture, Thickene... ORPHA:3206
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Craniofacial hyperostosis, Elevated circulating parathyroid hormone level, Diaphys... OMIM:122860
Proteus Syndrome
Thin bony cortex, Facial hyperostosis, Calvarial hyperostosis, Splenomegaly, Mandibular hyperostosis OMIM:176920
Majeed Syndrome
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... ORPHA:77297
Maffucci Syndrome
Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid adenoma, Neoplasm of the adre... ORPHA:163634
Tenorio Syndrome
Delayed cranial suture closure, Raynaud phenomenon, Syncope, Joint laxity, Gait disturbance, Apne... OMIM:616260
Marshall-Smith Syndrome
Increased susceptibility to fractures, Bowing of the long bones, Slender long bone, Accelerated s... ORPHA:561
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Sho... OMIM:614886
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short long bone, Hypophosphatemia... OMIM:156400
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Recurrent fractures, Short stature, Abnormality of the thyroid gland, Abnormal cal... ORPHA:417
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Hip contracture, Splayed epiphyses, Coxa vara, Rhizomelia,... OMIM:156550
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Oncogenic Osteomalacia
Renal phosphate wasting, Increased susceptibility to fractures, Abnormality of the tarsal bones, ... ORPHA:352540
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Pathologic fracture, Gait disturbance, Bone cyst OMIM:221770
Osteogenesis Imperfecta, Type Xxi
Coxa valga, Recurrent fractures, Coxa vara, Joint hypermobility, Bowing of the legs, Disproportio... OMIM:619131
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Hypocalcemic tetany, Small hand, Calvarial osteosclerosis, Stenos... ORPHA:93324
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... OMIM:262400
Osteogenesis Imperfecta, Type Xiii
Wide pubic symphysis, Recurrent fractures, Wide distal femoral metaphysis, Angulated humerus, Sho... OMIM:614856
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Hypoplasia of penis, Disproportionate short-limb short stature, Joint hyperf... ORPHA:2772
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Otosclerosis, R... OMIM:166220
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Florid Cemento-Osseous Dysplasia
Avascular necrosis, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone ... ORPHA:83451
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Delayed skeletal ma... ORPHA:314811
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Narrow pelvis bone, Respiratory distress, Abnormal... ORPHA:66637
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Short stature, Bruising susceptibility, Joint hypermobility, Recurrent joint... OMIM:619115
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Short femur, Adducted thumb, Hypertrophic cardiomyopathy, ... OMIM:616897
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea ORPHA:922
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Achondrogenesis Type 1A
Abnormal enchondral ossification, Recurrent fractures, Severe short stature, Short palm, Short foot ORPHA:93299
Dysosteosclerosis
Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Delaye... OMIM:224300
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Delayed skeletal ma... ORPHA:314802
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Rhizomelia, Short long bone, Short stature, Bruising susceptibility, Joint h... OMIM:616229
Menkes Disease
Short stature, Decreased circulating ceruloplasmin concentration, Joint laxity, Intracranial hemo... OMIM:309400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Respiratory insufficiency, Increased susceptibility to fractures, Advanced ossification of carpal... OMIM:615349
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Abnormality of renal excretion, Rickets of the lower limbs, Abnormal trabecu... ORPHA:289176
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Limb pain, Disproportionate short-trunk short stature, Reduced bon... ORPHA:93315
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Large poste... ORPHA:226313
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Petechiae, Increased bone mineral density, Reticulocytosis, Growth d... OMIM:611490
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Short stature, Osteomalacia, ... OMIM:613388
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Bone pain, Hydroxyprolinuria, Sh... OMIM:602080
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Oste... ORPHA:98850
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Dystonia, Postnatal gr... OMIM:616113
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Flexion contracture, Sinus tachycardia, Osteolysis, R... OMIM:614008
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Femoral bowing, General... OMIM:617952
Osteopetrosis, Autosomal Recessive 2
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count... OMIM:259710
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased susceptibility to fractures, Hyperaldosteronism, Increased circulating cortisol level, ... ORPHA:189427
Cole-Carpenter Syndrome 2
Recurrent fractures, Short stature, Coronal craniosynostosis, Wormian bones, Wide cranial sutures... OMIM:616294
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Wide anterior fontanel, Coxa valga, Abnormality of cranial sutures, A... ORPHA:163649
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypercalciuria, Epiphyseal dysplasia, Hypo... OMIM:614732
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Primary Pigmented Nodular Adrenocortical Disease
Increased susceptibility to fractures, Increased circulating cortisol level, Type II diabetes mel... ORPHA:189439
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Respiratory distress, Congenital hip dislocation, Multiple prenatal fracture... OMIM:271225
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral density, Hypoc... OMIM:259700
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Congestive heart failure, Recurrent fractures, Reduced bone minera... ORPHA:137608
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough ORPHA:50251
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... OMIM:612287
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cough, Respiratory distress, Tachypnea OMIM:263000
Osteogenesis Imperfecta, Type I
Increased susceptibility to fractures, Otosclerosis, Recurrent fractures, Bruising susceptibility... OMIM:166200
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Cleidocranial Dysplasia
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Large fontanelles, Genu valgum, ... ORPHA:1452
Gaucher Disease Type 3
Pulmonary arterial hypertension, Increased susceptibility to fractures, Anemia, Avascular necrosi... ORPHA:77261
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Hip dislocation, Unilateral renal agenesis, Aortic regurgitation,... OMIM:616603
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... OMIM:612286
Maternal Uniparental Disomy Of Chromosome 1
Delayed closure of the anterior fontanelle, Panhypogammaglobulinemia, Short stature, Epiphyseal s... ORPHA:251009
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Nephrolithiasis, Chronic neut... ORPHA:79259
Osteogenesis Imperfecta, Type Xi
Increased susceptibility to fractures, Protrusio acetabuli, Coxa vara, Short stature, Joint laxit... OMIM:610968
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Caffey Disease
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... OMIM:114000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Insulin Autoimmune Syndrome
Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinem... ORPHA:411593
Osteopetrosis, Autosomal Dominant 3
Anemia, Recurrent fractures, Hyperparathyroidism, Osteopenia, Splenomegaly OMIM:618107
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Myopathy And Diabetes Mellitus
Tip-toe gait, Inability to walk, Achilles tendon contracture, Type I diabetes mellitus, Respirato... ORPHA:2596
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Tapered finger, Hip dislocation, Hypoglycemia, Pain insensitivity, Delayed e... OMIM:616007
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Increased susceptibility to fractures, Abnormality of the knee, Generalized joint laxity, Small h... ORPHA:251028
Geroderma Osteodysplastica
Abnormal bone ossification, Recurrent fractures, Hip dislocation, Severe short stature, Joint hyp... ORPHA:2078
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Respiratory insufficiency, Metaphyseal rarefaction, Elbow f... OMIM:601559
Mastocytosis
Hypotension, Respiratory insufficiency, Recurrent fractures, Asthma, Telangiectasia of the skin, ... ORPHA:98292
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... OMIM:231070
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Increased susceptibility to fr... ORPHA:739
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Generalized joint laxity, Rhizomelia, Short stature, Tibial bowing... OMIM:613848
Osteogenesis Imperfecta
Somatic sensory dysfunction, Flexion contracture, Dislocated radial head, Large fontanelles, Abno... ORPHA:666
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... ORPHA:93351
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Glycogen Storage Disease Ia
Hyperuricemia, Short stature, Enlarged kidney, Abnormal bleeding, Hypertension, Gout, Delayed pub... OMIM:232200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Oculodentodigital Dysplasia
Camptodactyly of finger, Toe syndactyly, Short hallux, Hypoglycemia, Madelung deformity, Abnormal... ORPHA:2710
Idiopathic Juvenile Osteoporosis
Gait disturbance, Bone pain, Osteoporosis, Recurrent fractures ORPHA:85193
Gaucher Disease
Respiratory insufficiency, Increased bone mineral density, Osteolysis, Delayed skeletal maturatio... ORPHA:355
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Protrusio acetabuli, Delayed cranial suture closure, Wide anterior fontanel,... OMIM:610682
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Hyperuricemia, Aplastic clavicle, Recurrent fractures, Apl... ORPHA:2769
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Elbow flexion contracture, Bruising susceptibility, Contracture of the proximal interphalangeal j... OMIM:612394
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Increased bone mineral density, Delayed skeletal maturation, Larg... ORPHA:2658
Dysosteosclerosis
Recurrent fractures, Short stature, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:1782
Mucolipidosis Ii Alpha/Beta
Hip subluxation, Coxa valga, Premature anterior fontanel closure, Flared iliac wing, Camptodactyl... OMIM:252500
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Severe short stature, Osteopenia, Osteoporosis OMIM:126550
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Hypergl... OMIM:175700
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Hereditary Sensory And Autonomic Neuropathy Type 1
Neuropathic arthropathy, Osteomyelitis, Gait imbalance, Inability to walk, Impaired distal tactil... ORPHA:36386
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Hallux valgus, Patel... ORPHA:536471
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Brittle Cornea Syndrome
Increased susceptibility to fractures, Hallux valgus, Pulmonic stenosis, Hip dysplasia, Camptodac... ORPHA:90354
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:151210
Perching Syndrome
Respiratory distress OMIM:617055
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Recurrent fractures, Short long bone, Enlarged kidney, Splenic cyst, Re... OMIM:618188
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... OMIM:208230
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Respiratory distress, Osteolysis, Periosti... OMIM:612852
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Hypothyroidism, Short stature, Hip dislocation, Hypoglycemia, Osteopeni... OMIM:618005
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... OMIM:239000
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Elbow ... ORPHA:1143
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death OMIM:615228
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
H Syndrome
Hypertriglyceridemia, Facial telangiectasia, Recurrent fractures, Hypogonadism, Hallux valgus, Sh... ORPHA:168569
Mccune-Albright Syndrome
Precocious puberty, Hyperphosphaturia, Bone marrow hypocellularity, Fibrous dysplasia of the bone... ORPHA:562
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Large fo... OMIM:119600
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Decreased DLCO, Dyspnea, Cough OMIM:234810
Rothmund-Thomson Syndrome
Increased susceptibility to fractures, Anemia, Broad ulna, Short stature, Calcinosis, Abnormal tr... ORPHA:2909
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increas... ORPHA:98849
Cole-Carpenter Syndrome 1
Recurrent fractures, Short stature, Coronal craniosynostosis, Osteopenia, Reduced bone mineral de... OMIM:112240
Dysplasia Epiphysealis Hemimelica
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Accelerated skeletal matura... ORPHA:1822
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Hypothyroidism, Abnormal trabecular bone morphology, Metaphyseal striati... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Abnormal trabecular bone morphology, Metaphyseal striations, Delayed ske... ORPHA:221016
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus, Thin bony cortex, Sea-blue histiocytosis, Coxa valga, Gait disturbance,... OMIM:230600
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Death in infancy, Abnormal trabecular bone morphology, R... OMIM:612301
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... ORPHA:95717
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Hypoplasia of penis, ... ORPHA:181393
Shashi-Pena Syndrome
Patent ductus arteriosus, Short metacarpal, Accelerated skeletal maturation, Unilateral renal age... OMIM:617190
Hao-Fountain Syndrome
Delayed cranial suture closure, Hallux valgus, Central sleep apnea, Clinodactyly of the 5th finge... OMIM:616863
Mandibuloacral Dysplasia With Type A Lipodystrophy
Delayed cranial suture closure, Flexion contracture, Coxa valga, Acroosteolysis of distal phalang... OMIM:248370
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Short stature, Enlarged kidney, Hypertension, Membranoproliferative glomerul... ORPHA:251004
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Tarsal sclerosis, Coxa valga, Inability to walk, Delayed skeletal maturatio... ORPHA:404454
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Epiphyse... OMIM:215140
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short phalanx of finger, Delayed cranial suture closure, Hyperinsulinemia, Flexion contracture, A... OMIM:608612
Hemochromatosis Type 2
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Hypogonadism, Arth... ORPHA:79230
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Recurrent fractures, Abnormal finger morphology, Short stature, Hyperphosphat... OMIM:163200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Multiple joint contractures, Hallux valgus, Postnatal growth retardati... ORPHA:536467
Diaphanospondylodysostosis
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Delayed vertebral os... OMIM:608022
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Mehmo Syndrome
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Birth leng... OMIM:300148
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Elbow flexion contracture, Hip dislocation... OMIM:245600
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Impaired urinary acid... OMIM:179800
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Fanconi-Bickel Syndrome
Renal tubular acidosis, Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Hyperphosphatur... ORPHA:2088
Alg12-Cdg
Complete or near-complete absence of specific antibody response to tetanus vaccine, Camptodactyly... ORPHA:79324
Laron Syndrome
Short toe, Abnormality of the elbow, Hypoplasia of penis, Brachydactyly, Severe short stature, De... ORPHA:633
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea... OMIM:610921
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Familial Dysautonomia
Avascular necrosis, Recurrent fractures, Gait disturbance, Hypertension, Ataxia, Osteolysis, Impa... ORPHA:1764
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Intermediate Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Difficulty walking, Respiratory failure, Arthro... ORPHA:171433
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Menkes Disease
Chorea, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Intrauterine growth retardation, I... ORPHA:565
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Metaphyseal sclerosi... OMIM:260400
Mirage Syndrome
Adrenal insufficiency, Hypoglycemia, Hyponatremia, Thrombocytopenia, Rocker bottom foot, Radial c... OMIM:617053
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Respiratory distress, Inc... ORPHA:26792
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Recurrent fractures, Increased circulating IgE level, Cough, Joint hyperflexibilit... ORPHA:2314
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory insufficiency, Respiratory distress, Elevated circulating cr... OMIM:614399
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Rickets, Diabetes ... OMIM:616026
Kallmann Syndrome
Recurrent fractures, Anterior hypopituitarism, Hypothalamic gonadotropin-releasing hormone defici... ORPHA:478
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Gait imbalance, Short stature, Dilated cardiomyopathy, Elevated circ... OMIM:618120
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Short stature, Flared metaphysis, Os... OMIM:269300
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... ORPHA:95716
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Patent ductus arteriosus, Telangiectasia, Upper limb undergrowth, Small... OMIM:608799
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Campomelic Dysplasia
Respiratory insufficiency, Hydronephrosis, Tracheobronchomalacia, Recurrent fractures, Short stat... ORPHA:140
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Osteoglophonic Dysplasia
Short phalanx of finger, Increased susceptibility to fractures, Pseudoarthrosis, Short foot, Shor... OMIM:166250
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Coxa vara, Delayed calcaneal ossification, Hip dislocation, Respiratory d... OMIM:183900
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bowing of the long bones, Anemia, Recurrent fractures, Hypophosp... ORPHA:667
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Abnormal circulating fatty-acid concentra... ORPHA:263455
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Delayed closure of the anterior fontanelle, Short stature, Clinodactyly of the 5th f... ORPHA:231140
Glycogen Storage Disease Ib
Hyperuricemia, Short stature, Enlarged kidney, Hypertension, Gout, Osteoporosis, Delayed puberty,... OMIM:232220
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Respiratory distress, Inability to walk OMIM:617977
Roifman Syndrome
Short toe, Hip contracture, Decreased T cell activation, Short stature, Decreased circulating ant... ORPHA:353298
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... ORPHA:324575
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension, Generalized bone demineralization, Hyperuricemia, Normocyti... ORPHA:199299
Illum Syndrome
Bradycardia OMIM:208155
Hamamy Syndrome
Neck pterygia, Tapered finger, Recurrent fractures, Hip dysplasia, Clinodactyly of the 5th finger... OMIM:611174
Grange Syndrome
Patent ductus arteriosus, Increased susceptibility to fractures, Hypertension, Aortic regurgitati... ORPHA:79094
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Renal tubular acidosis, Short stature, Abnormal erythrocyte enzyme level, Elevated circul... ORPHA:264580
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Patellar dislocation, Abnormally ossified vertebrae, Short stature, Epiphyse... ORPHA:35173
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Persistent fetal circulation, Finger j... ORPHA:363705
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Slender toe, Clinodactyly, Joint laxity, Down-sloping shoulders, Broad-based gait... ORPHA:391408
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Hypertension, Respiratory d... OMIM:616733
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Wrist flexion contracture, Hydronephrosis, Recurrent fractures, ... OMIM:609465
Frank-Ter Haar Syndrome
Short phalanx of finger, Delayed cranial suture closure, Wide anterior fontanel, Short long bone,... OMIM:249420
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Short stature, Insulin resistance, Growth del... OMIM:619322
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Elbow ankylosis, Na... ORPHA:83
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Increased susceptibility to fractures, Reduced natural killer cell count, Decreased circulating t... OMIM:619752
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures, Tremor, Dystonia OMIM:304700
Insulin-Like Growth Factor I Deficiency
Short stature, Clinodactyly of the 5th finger, Decreased serum insulin-like growth factor 1, Dela... OMIM:608747
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
Bardet-Biedl Syndrome 16
Polydactyly, Short stature, Hypogonadism, Stage 5 chronic kidney disease, Respiratory distress, R... OMIM:615993
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Tapered finger, Tapered toe, Elbow... OMIM:608836
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Tip-toe gait, Aspiration pneumonia, Inability to walk, Gai... ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Death in infancy, Adrenal insufficiency, Elevate... OMIM:619386
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Distal Renal Tubular Acidosis
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Nephrolithiasis, Reduced bone... ORPHA:18
Odontochondrodysplasia
Patent ductus arteriosus, Coxa valga, Abnormal metaphysis morphology, Death in infancy, Short sta... ORPHA:166272
Lysinuric Protein Intolerance
Respiratory insufficiency, Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Pulmonary... OMIM:222700
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Elevated circulating thyroid-stimulating hormone concentration, R... OMIM:601812
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Exertional dyspnea, Dyspnea, Cough, Decreased DLCO OMIM:178500
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoplasia of penis, Congestive heart failu... ORPHA:2022
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Inability to walk, Flared iliac wing, Hypertrophic cardiomyopathy, Bone marr... OMIM:617303
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Short stature, Glycosuria, Stage 5 chronic kidney disease, Rickets, Renal Fa... OMIM:268315
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1