Gene Summary

SET domain containing 3
D12Ertd771e,  2610305M23Rik,  2610102I01Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
shortened QT interval Setd3tm1.1(NCOM)Mfgc HOM   Early adult 8.50×10-05
abnormal pancreas morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
increased bone mineral content Setd3tm1.1(NCOM)Mfgc HOM Early adult 3.20×10-06
increased bone mineral density Setd3tm1.1(NCOM)Mfgc HOM Early adult 9.76×10-07
increased lymphocyte cell number Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.64×10-08
decreased body length Setd3tm1.1(NCOM)Mfgc HOM Early adult 2.35×10-05
abnormal seminal vesicle morphology Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
decreased prepulse inhibition Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.18×10-10
hydrometra Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
hyperactivity Setd3tm1.1(NCOM)Mfgc HOM Early adult 1.84×10-06
short tibia Setd3tm1.1(NCOM)Mfgc HOM Early adult 6.67×10-10
vertebral fusion Setd3tm1.1(NCOM)Mfgc HOM   Early adult 6.83×10-07
small testis Setd3tm1.1(NCOM)Mfgc HOM Early adult 0.00
increased leukocyte cell number Setd3tm1.1(NCOM)Mfgc HOM Early adult 2.19×10-07

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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.



13 Images

Gross Pathology and Tissue Collection


7 Images


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Skull Lateral Orientation

16 Images


Panel B FCS file(s)

6 Images


XRay Images Whole Body Dorso Ventral

16 Images


Panel A FCS file(s)

6 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Combined SHIRPA and Dysmorphology


1 Images

Human diseases caused by Setd3 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 Setd3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Fragmented, irregular ... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Joint stiffness, Thickened cort... ORPHA:564003
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Delayed femoral head ossification, Multicentric femoral... ORPHA:168621
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Pedal edema, Increased bone mineral density ORPHA:75325
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... OMIM:118651
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Joint stiffness, Abnormal pelvis bone ossification, Increased bo... ORPHA:166119
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Syndactyly Type 4
Toe syndactyly, Foot polydactyly, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Limb... ORPHA:93284
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fi... OMIM:200700
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Diastrophic Dysplasia
Cryptorchidism, Micrognathia, Micromelia, Scoliosis, Hip dysplasia, Bowing of the long bones, Inc... ORPHA:628
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Micr... OMIM:113000
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Bowing of the long bones, Brachydactyly, Joint stiffness, Fibular hyp... ORPHA:2098
Infertility, Increased bone mineral density, Low back pain OMIM:166450
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Increased bone... ORPHA:90650
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Hyperparathyroidism-Jaw Tumor Syndrome
Testicular neoplasm, Bone pain, Primary hyperparathyroidism, Parathyroid adenoma, Osteoporosis, U... ORPHA:99880
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Micropenis, Short tibia... OMIM:612447
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Ectopic ossification, Diabetes mellitus, Increased bone mine... OMIM:602475
Parathyroid Carcinoma
Parathyroid carcinoma, Testicular neoplasm, Bone pain, Primary hyperparathyroidism, Osteoporosis,... ORPHA:143
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Aarskog-Scott Syndrome
Talipes, Finger syndactyly, Short palm, Congestive heart failure, Cryptorchidism, Pes planus, Sha... ORPHA:915
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Intestinal carcinoid, Abnormal circulating aldosterone, Pul... ORPHA:652
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Insulin-Like Growth Factor I Deficiency
Clinodactyly, Osteopenia, Hyperactivity, Micrognathia, Delayed skeletal maturation, Radial deviat... OMIM:608747
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Iron deficiency anemi... ORPHA:93315
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Hype... ORPHA:1879
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Brachydactyly, Wormian bones, Abnormality of pelvic girdle bone morphology, Increased bone minera... OMIM:265800
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Congest... OMIM:610198
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Hepatomegaly, ... ORPHA:2204
Tibial Hemimelia
Cryptorchidism, Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankl... ORPHA:93322
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Sandwich appearance of vertebral bodies, Erlenmeyer flas... ORPHA:210110
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck... OMIM:601559
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Bon... ORPHA:37748
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Avascular necrosis, Osteoarthritis, Joi... ORPHA:53
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Sandal gap, Micropenis, Short ribs, Rhizomelia, Hypoplasia of the ... OMIM:607143
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clin... ORPHA:3320
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Abnormality of cranial sutures, Coxa valga, Increased bone m... ORPHA:163649
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Gorlin Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Vertebral wedging, Plantar pits, Ar... ORPHA:377
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Osteopenia, Coxa valga, ... ORPHA:356961
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Increased bone mineral density OMIM:265880
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Kyphosis, Sandal gap, Ankle flexion contracture, ... OMIM:619040
Kbg Syndrome
Thoracic kyphosis, Short neck, Cutaneous syndactyly, Cryptorchidism, Persistent open anterior fon... ORPHA:2332
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Arrhythmia, Fibular hypoplasia, Absent radius, Apla... OMIM:171480
Gaucher Disease Type 1
Pancytopenia, Avascular necrosis, Anemia, Pedal edema, Bone pain, Hypersplenism, Thrombocytopenia... ORPHA:77259
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Ring Chromosome 21 Syndrome
Clinodactyly, Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Fused thoracic vertebrae,... ORPHA:1445
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Preaxial polydactyly, Mesomelic leg shortening, Oligod... ORPHA:2756
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Increased bone mineral density, Dislocated radial head, Osteoporosis, Platyspondyl... OMIM:614856
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th finger, Micrognathia, Bidirectional ventricular ectopy, Scoliosis, Small ... OMIM:170390
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Sandwich appearan... OMIM:259700
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Flared elbow metaphyses, Micrognathia, Generalized osteosclerosi... ORPHA:1423
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Aplasia of the distal phalanges of the toes, Disproportionate shortenin... OMIM:619217
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, B... ORPHA:313892
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Advanced tarsal ossificat... OMIM:215045
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifid... OMIM:613686
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion, Micrognathia OMIM:221950
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cryptorchidism, Vertebral arch anomaly, Vertebral fusion, Delaye... OMIM:148050
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormality of epiph... ORPHA:1306
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Muscle hypertrophy of the lower extremities, ... ORPHA:1772
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resista... ORPHA:94089
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... ORPHA:1106
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Cryptorchidism, Micrognathia, Ambiguous genitalia, Thrombocytopenia ORPHA:1237
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... OMIM:274000
Andersen-Tawil Syndrome
Torsade de pointes, Premature ventricular contraction, Micrognathia, Bidirectional ventricular ec... ORPHA:37553
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Sacral dimple, Tarsal synostosis, Posteri... ORPHA:2064
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepatom... ORPHA:398124
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Talipes equinovarus, Vertebral fusion, Short long bone, Vertebral segmentation defect OMIM:618845
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Decreased response to growth hormone... ORPHA:763
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Cryptorchidism, 11 pairs of ribs, Thoraci... OMIM:108720
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Thigh hypertrophy, Scoliosis, Vertebral fus... OMIM:606612
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Fib... OMIM:605274
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislo... OMIM:615583
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Cryptorchidism, Mirror i... ORPHA:2378
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Pseudoepiphyses, Scoliosis... OMIM:157800
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fused cervi... ORPHA:1436
Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Narrow pelvis bone, Abno... ORPHA:66637
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Cryptorchidism, Bifid distal phalanx of toe, Micrognathia, Right vent... OMIM:268310
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Hypoplastic vertebral bodies, Posta... OMIM:263540
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Arrhythmia, Azoospermia, Congestive heart failure, Ost... OMIM:235200
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, ... ORPHA:85184
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Thickened cort... OMIM:607634
Omodysplasia 1
Short neck, Popliteal pterygium, Fibular hypoplasia, Cryptorchidism, Rhizomelia, Increased fibula... OMIM:258315
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Clinodactyly of the 5th finger, Limited elbow extension and supination... OMIM:244600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Cryptorchidism, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac win... OMIM:609945
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Osteomalacia, Abnormal... ORPHA:289176
Majeed Syndrome
Metaphyseal irregularity, Flexion contracture, Increased bone mineral density, Congenital hypopla... ORPHA:77297
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Maternal diabetes, Hypoplastic vertebral bodies, Abnormality of pe... ORPHA:3027
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Flexion contracture, Osteopenia, Hyperinsulinemia, Osteoporosis, Splenomegaly,... OMIM:613327
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia,... OMIM:251230
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Osteoporosis, Diabetes mellitus, Stiff interph... ORPHA:465508
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Pseudohypoparathyroidism Type 1C
Brachydactyly, Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resistance to ... ORPHA:79444
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Knee pain, Spa... OMIM:600785
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Osteopenia, Azoosperm... OMIM:614837
Schwartz-Jampel Syndrome
Abnormally straight spine, Pes planus, Osteoporosis, Micrognathia, Protrusio acetabuli, Micromeli... ORPHA:800
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis, Micrognathia... ORPHA:2849
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Scoliosis, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Sh... OMIM:151200
Pseudohypoparathyroidism Type 1A
Hypertension, Decreased response to growth hormone stimulation test, Short fifth metatarsal, Olig... ORPHA:79443
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Scoliosis, Low back pain, Vertebral fusion, Butterfly vertebrae, Hemive... OMIM:122600
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull base, Micrognathia, Joint... OMIM:130720
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Hypoplastic frontal sinu... ORPHA:90652
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Congenital bilateral hip dislocation, Increased serum serotonin, Talipes... ORPHA:85288
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Cryptorchidism, Metaphyseal spurs, ... ORPHA:96334
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Micrognathia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis... OMIM:265000
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Primary amenorrhea, Widened proximal ti... OMIM:609441
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Cryptorchidism, External genital hypoplasia, Scoliosis, Brachydactyly,... ORPHA:2658
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hypospadias, Hyperlordosis, Micrognathia, Fus... ORPHA:2522
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Sclerosis of foot bone, Metaphyseal sclerosis, Ere... ORPHA:2905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Kyphosis, Abnormal left ventricular function... OMIM:607155
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Increased bone mineral density, Hypoplastic vertebral bodies, Recurrent fractures, Craniofacial h... ORPHA:1782
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Decreased calvarial ossification, Hypoplastic pubic bone, Septate vagina, Sho... OMIM:617925
Autoimmune Hypoparathyroidism
Increased bone mineral density, Abnormal left ventricular function, Ventricular arrhythmia, Prolo... ORPHA:36913
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Partial fusion of tarsals, Camp... OMIM:305620
Aarskog-Scott Syndrome
Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone level, Pes planus, Syndact... OMIM:305400
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cryptorchidism, Clinodactyly of the 5th finger, Pancreatic islet-cell hyperplasia... ORPHA:373
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Frontometaphyseal Dysplasia
Pes valgus, Limitation of knee mobility, Micrognathia, Pes cavus, Scoliosis, Metaphyseal widening... ORPHA:1826
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Kyphosis, Cryptorchidism, Micropenis, Joint laxity, Pes planus, Sandal gap, Hypera... OMIM:300354
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Block vertebrae, Missing ribs, Short neck, Short ribs, Supernumerary verte... OMIM:271520
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Delayed skeletal maturation, Hypogonadism OMIM:618165
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Flattening of the talar dome, Bone pain, Genu valgum... ORPHA:89936
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Sclerotic vertebral ... OMIM:611490
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Micrognathia, Abno... OMIM:312150
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Amenorrhea, Abnormality of epiphysis morphology, Abnorm... ORPHA:3130
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Epistaxis, E... OMIM:612840
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Tho... OMIM:309620
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Flexion ... OMIM:601560
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short long bone, Micropenis, Short ribs,... OMIM:263520
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Leukocytosis, Congestive heart failure, Hypopituitarism, Cerebral hemorrhage, ST ... ORPHA:90065
Werner Syndrome
Decreased fertility, Joint stiffness, Increased bone mineral density, Congestive heart failure, R... ORPHA:902
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Pes planus, Clinodactyly of the 5th finger, Scoliosis, Verteb... OMIM:272460
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Micrognathia, Facial hyperostosis, Scoliosis, Spin... ORPHA:2780
Koolen-De Vries Syndrome
Vertebral segmentation defect, Hypothyroidism, Kyphosis, Cryptorchidism, Arachnodactyly, Scoliosi... ORPHA:96169
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Cryptorchidism, Abnormal foot morphology, Hyperactivity,... ORPHA:352490
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Increased susceptibility to fractures, Joint dislocation, Micrognathia, Abno... OMIM:253290
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Accelerated skeletal maturation, Cryptorchidism, Short metacarpal, Cone-shaped epi... OMIM:614613
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Testicular atrophy,... OMIM:601163
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Wormian bones, Short neck, Increased bone mineral densit... ORPHA:1798
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Osteopenia, Flexion contracture,... OMIM:616809
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Timothy Syndrome
Hypothyroidism, Cutaneous syndactyly, Prolonged QT interval, Bradycardia, Syndactyly OMIM:601005
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... ORPHA:432
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Cryptorchidism, Micropenis, Patchy osteosclerosis, Micrognathia, Small hand, Delayed ... OMIM:241410
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Sacral dimple, Cryptorchidism, Positional foot deformity, Hyperactivity... OMIM:610443
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jau... ORPHA:231222
Alazami-Yuan Syndrome
Cryptorchidism, Hyperactivity, Broad hallux OMIM:617126
Basal Cell Nevus Syndrome
Brachydactyly, Irregular ossification of hand bones, Short distal phalanx of the thumb, Short rib... OMIM:109400
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Seckel Syndrome 1
Pancytopenia, Talipes, Cryptorchidism, 11 pairs of ribs, Pes planus, Sandal gap, Clinodactyly of ... OMIM:210600
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Pes planus, Osteoporosis, Micrognat... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Pes planus, Osteoporosis, Micrognat... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Pes planus, Osteoporosis, Micrognat... ORPHA:99228
Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Pes planus, Osteoporosis, Micrognat... ORPHA:99226
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Hypothyroidism, Perineal hypospadias, Microvesicular hepatic steatosis, N... ORPHA:66634
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Mend Syndrome
Kyphosis, 2-3 toe syndactyly, Cryptorchidism, Overlapping fingers, Hyperactivity, Polydactyly, Lo... OMIM:300960
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Ck Syndrome
Kyphosis, Hyperactivity, Hyperlordosis, Micrognathia, Joint hypermobility, Scoliosis, Abnormal di... OMIM:300831
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Talipes,... ORPHA:959
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Aplasia of the uterus, Hypoplasia of the vagina, Abnormal form of the... ORPHA:3109
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Fragile X Syndrome
Congenital macroorchidism, Pes planus, Joint laxity, Hyperactivity, Metacarpophalangeal joint hyp... OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Flexion contracture OMIM:615351
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Micropenis, Short rib... OMIM:613091
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Hemihypotrophy of lower limb, Fused cervical vertebrae, Micrognathia OMIM:108450
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Pe... OMIM:602111
Lamb-Shaffer Syndrome
Thoracic kyphosis, Hyperactivity, Micrognathia, Scoliosis, Fused cervical vertebrae, Hip dysplasia ORPHA:530983
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Recurrent fractures, Increased bone mineral density, Kyphos... OMIM:239000
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Axial Osteomalacia
Polycystic liver disease, Increased bone mineral density, Osteomalacia OMIM:109130
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Increased bone mineral density, Congestive hea... ORPHA:35687
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Sclerosis of skull base, Anemia, Scoliosis,... OMIM:131300
Occipital Horn Syndrome
Cholestasis, Pes planus, Osteoporosis, Osteomalacia, Scoliosis, Hepatitis, Genu valgum, Hip dyspl... ORPHA:198
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Syncope, Prolon... ORPHA:90647
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Syndactyly, Sudden cardiac death, Syncope, Prolonged... OMIM:618447
Ivic Syndrome
Absent thumb, Rectovaginal fistula, Carpal synostosis, Leukocytosis, Hypoplasia of the ulna, Limi... OMIM:147750
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Splenomegaly, Hepatomegaly, Osteomyelitis, Osteolysis, Fus... OMIM:612852
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Ovoid verteb... OMIM:608940
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Microg... OMIM:616549
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Achilles tendon contracture, Exocrine pancreatic insufficiency, Hypothyroidism, Ulnar deviation o... ORPHA:456312
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Prolonged QT interval, Pseudohypoparathyroidism ORPHA:94090
Ivic Syndrome
Synostosis of carpal bones, Rectovaginal fistula, Joint stiffness, Leukocytosis, Arrhythmia, Trip... ORPHA:2307
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Fanconi Anemia, Complementation Group I
Absent thumb, Hypothyroidism, Short neck, Short thumb, Hypoplasia of the radius, Neutropenia, Fus... OMIM:609053
Myhre Syndrome
Brachydactyly, Clinodactyly, Short long bone, Joint stiffness, 2-3 toe syndactyly, Short neck, Cr... OMIM:139210
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Sanjad-Sakati Syndrome
Cryptorchidism, Patchy osteosclerosis, Hypoplasia of penis, Micrognathia, Hypoparathyroidism, Spi... ORPHA:2323
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short rib... OMIM:304120
19P13.12 Microdeletion Syndrome
Hypothyroidism, Craniosynostosis, Toe clinodactyly, Aortic regurgitation, Arrhythmia, Finger synd... ORPHA:254346
Mosaic Trisomy 20
Clinodactyly, Kyphosis, Cryptorchidism, Micrognathia, Down-sloping shoulders, Scoliosis, Spinal c... ORPHA:1724
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Cryptorchidism, Anteriorly displaced genitalia, Aplasia/Hypopla... OMIM:276820
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia OMIM:300376
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT interval, Hypertension, Adren... ORPHA:251274
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Adrenal hypoplasia, Anemia, Hypoplasia of t... OMIM:619151
Talipes, Increased bone mineral density, Splenomegaly, Micrognathia, Metatarsus adductus, Microme... ORPHA:35107
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Accelerated skeletal maturation, Increased bone mineral density, Abnorm... ORPHA:50945
Chromosome 15Q25 Deletion Syndrome
Short neck, Cryptorchidism, Hyperactivity, Long fingers, Macrocytic anemia, Attention deficit hyp... OMIM:614294
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Robinow Syndrome
Acromesomelia, Missing ribs, Cryptorchidism, Micrognathia, External genital hypoplasia, Mesomelic... ORPHA:97360
Clubbing, Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral densi... ORPHA:33364
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, 2-3 toe syndactyly, Cryptorchidism, Clinodactyly of the 5th finger, Hyperactivity,... ORPHA:3306
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Atypical Werner Syndrome
Pes planus, Sclerosis of hand bone, Osteoporosis, Micrognathia, Telangiectasia of the skin, Chond... ORPHA:79474
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Wolf-Hirschhorn Syndrome
Accessory spleen, Cryptorchidism, Short thumb, Micrognathia, Scoliosis, Vertebral fusion, Hip dys... OMIM:194190
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Hyperextensible hand joints, Shawl scrotum, Clinodactyly of the 5th finger, Metat... OMIM:227330
Ck Syndrome
Long toe, Hyperactivity, Joint hypermobility, Lumbar hyperlordosis, Long fingers, Microretrognath... ORPHA:251383
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Uterus didelphys, Micrognathia, Hemivertebrae, Hip dislocation, A... OMIM:200980
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Scoliosis, Abno... OMIM:118100
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendo... OMIM:203500
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:264700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Hyperactivity, Kyphoscoliosis, Scoliosis, Premature ovarian insufficiency, Ly... ORPHA:391307
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Missing ribs, Vertebral hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Morm Syndrome
Micropenis, Hyperactivity ORPHA:75858
Phocomelia, Schinzel Type
Bowing of the long bones, Aplasia of the uterus, Talipes, Hand oligodactyly, Short neck, Cryptorc... ORPHA:2879
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Shoulder subluxation, Duplication of phalanx of hand, Pes plan... ORPHA:508498
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia, Craniosynostosis OMIM:218550
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Short neck, Short palm, Kyphosis, Sandal gap, Clinodactyly of the 5th finger, Hyp... ORPHA:85293
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Bowing of the legs, Osteopenia, Patchy osteosclerosis, Metaphyseal s... OMIM:112250
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Vasculitis, Aplastic ane... OMIM:308240
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Pes planus, Narrow vertebral interpedicular distan... OMIM:143095
Gitelman Syndrome
Hashimoto thyroiditis, Iron deficiency anemia, Chondrocalcinosis, Neoplasm of the pancreas, Ventr... ORPHA:358
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Splenopancreatic fusion, Sacrococcygeal teratoma, Short 1st metacarpal, Hypoplast... OMIM:269150
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Clinodactyly, Hyperactivity, Osteoporosis, Micrognathia, Pulmonary art... ORPHA:447980
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Avascular necrosis, Increased susceptibility to fra... ORPHA:77261
Apert Syndrome
Cryptorchidism, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Vaginal atresia, Syno... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Krakow Type
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, 2-3 toe syndactyly, Rhizomelia, Scl... OMIM:618162
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density, Finger clinodactyly ORPHA:3352
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Recurrent fractures, Tracheomala... ORPHA:140
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... OMIM:160900
Rett Syndrome
Abnormal T-wave, Kyphosis, Prolonged QTc interval, Scoliosis, Short foot OMIM:312750
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Gaucher Disease
Pancytopenia, Avascular necrosis, Anemia, Hepatitis, Arthrogryposis multiplex congenita, Bone pai... ORPHA:355
Cerebral Creatine Deficiency Syndrome 1
Pes cavus, Attention deficit hyperactivity disorder, Prolonged QT interval, Joint hypermobility OMIM:300352
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Normocytic anemia, Granulocytopenia, Congestive h... ORPHA:75564
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Osteopenia, Hyperinsulinemia, Ost... ORPHA:785
Camurati-Engelmann Disease
Abnormality of the vertebral column, Abnormality of the ulna, Craniofacial osteosclerosis, Pes pl... ORPHA:1328
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Osteoporosis, Bicornuate uterus, Secondary amenorr... OMIM:615300
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Joint stiffness, Hyperactivity, Splenomegaly, Hepatomegaly, Dense ... OMIM:252900
17Q24.2 Microdeletion Syndrome
Pineal cyst, Short neck, Upper limb undergrowth, Pulmonic stenosis, Micrognathia, Secondary ameno... ORPHA:529962
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Joint hypermobility OMIM:300143
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Satoyoshi Syndrome
Brachydactyly, Amenorrhea, Pes planus, Short metacarpal, Osteolytic defects of the phalanges of t... OMIM:600705
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Pediatric-Onset Graves Disease
Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorder... ORPHA:525731
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Hyperactivity, Precocious puberty, Scoliosis ORPHA:457260
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Gastrointestinal hemorrhage, He... ORPHA:98850
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Hepatomega... ORPHA:26793
Fanconi Anemia, Complementation Group D2
Pancytopenia, Absent thumb, Reticulocytopenia, Leukemia, Absent radius, Cryptorchidism, Micropeni... OMIM:227646
Feingold Syndrome
Brachydactyly, Toe syndactyly, Abnormal form of the vertebral bodies, Deviation of the 2nd finger... ORPHA:1305
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Hyperactivity, Macroorchidism, Congestive heart failure ORPHA:3077
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Kaposiform Lymphangiomatosis
Fractures of the long bones, Subconjunctival hemorrhage, Abnormal pelvis bone morphology, Hepatos... ORPHA:464329
Bone Marrow Failure Syndrome 3
Pancytopenia, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperactivity, Acute myeloid leu... OMIM:617052
Estrogen Resistance
Osteopenia, Primary amenorrhea, Hyperinsulinemia, Delayed skeletal maturation, Hypoplasia of the ... OMIM:615363
Bohring-Opitz Syndrome
Flexion contracture, Prominent metopic ridge, Sacral dimple, Dislocated radial head, Supernumerar... OMIM:605039
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Abnormality of the spleen, Osteopoikilos... ORPHA:94063
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Acetabul... OMIM:615503
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Joint stiffness, Hyperactivity, Splenomegaly, Hepatomegaly, Dense ... OMIM:252920
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Pedal... ORPHA:563
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, Osteomyelitis, B... OMIM:619652
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Recurrent fractures, Vertebral compression fracture, Tibial bowing, Be... OMIM:231070
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Clinodactyly of the 5th finger, Hyperactivity, Osteoporosis, Micrognathia, Delayed ... ORPHA:73272
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Prolonged QTc interval, Pericarditis ORPHA:231111
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Hypoplastic pubic bone, 2-3... OMIM:260660
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
16P12.1P12.3 Triplication Syndrome
Brachydactyly, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Tapered finger, Short 5th fing... ORPHA:485405
Paget Disease Of Bone 3
Bone pain, Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, 2-3 toe syndactyly, Pes planus, Clinodactyly of the 5th finger, Hyperactivity,... OMIM:619467
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Myelofibrosis, Acute myeloid leukemia, Splenomegaly, Low back pain, Lymphocytosis, ... ORPHA:86843
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Ventricular fibrillation, Premature pubarche, Torsade de pointes, Cardiac arrest,... OMIM:616878
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Joint stiffness, Hyperactivity, Splenomegaly, Hepatomegaly, Dense ... OMIM:252930
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Hyperact... ORPHA:8
Bilateral talipes equinovarus, Rhizomelia, Ambiguous genitalia, female, Micrognathia, Generalized... OMIM:602398
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Decreased fertility, Testicular atrophy OMIM:313200
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Limited mobility of proximal interphala... OMIM:222300
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Brachydactyly, Flexion contracture, Cryptorchidism, Micropenis, Talipes calcaneov... OMIM:300534
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Brachydactyly, Clinodactyly, 4-5 toe syndactyly, Rocker bottom foot, Joint laxity, Clinodactyly o... ORPHA:488642
Williams Syndrome
Hypothyroidism, Cryptorchidism, Pes planus, Clinodactyly of the 5th finger, Osteoporosis, Microgn... ORPHA:904
Duane Retraction Syndrome
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Absent radius, Abnormal vertebr... ORPHA:233
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Hyperactivity, Postaxial polydactyly OMIM:615824
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Abnormality of the medullary cavity of the long bones, Delayed cl... OMIM:127000
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the ulna, Absent radius, Pes planus, Sandal gap, Preaxial polydactyly... OMIM:607323
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder OMIM:618504
2Q23.1 Microdeletion Syndrome
Short palm, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Hyperactivity, Hypoplasia... ORPHA:228402
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Annular pancreas, Aplasia/... ORPHA:2470
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Frontometaphyseal Dysplasia 2
Cryptorchidism, Dislocated radial head, Short metacarpal, Congenital hip dislocation, Pulmonic st... OMIM:617137
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Genu varum, Metaphyseal irregularity, Normocytic anemia, Hyper... OMIM:617941
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Anemia, Acute monocytic leukemia, Ankle... ORPHA:514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Bone pain, Thrombocytopenia, Normocytic anemia, Myeloproliferative disorder, Neutro... ORPHA:98849
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Short neck, Advanced tarsal ossification, Hypoplastic vertebral ... ORPHA:3144
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cleft vertebral arch, Coronal craniosynostosis, Contracture of the distal interph... ORPHA:83617
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Raine Syndrome
Brachydactyly, Bowing of the long bones, Short neck, Increased bone mineral density, Micrognathia... OMIM:259775
T-wave inversion, Abnormal EKG, Pancreatic hypoplasia, Abnormal foot morphology, Congenital hip d... ORPHA:1666
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Fasting hyperinsulinemia,... ORPHA:71212
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Trisomy 8P
Brachydactyly, Metopic suture patent to nasal root, Clinodactyly of hallux, Multiple joint contra... ORPHA:264450
Polycythemia Vera
Increased hemoglobin, Gastrointestinal hemorrhage, Leukocytosis, Cerebral hemorrhage, Increased h... OMIM:263300
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Abnormal vagina morphology, Upper limb undergrowth, D... OMIM:236680
Intellectual Disability, Birk-Barel Type
Sacral dimple, Contractures involving the joints of the feet, Hyperactivity, Fatiguable weakness ... ORPHA:166108
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Pes cavus, Abnormal EKG, Scoliosis, Decreased/absent ankle reflexes ORPHA:1177
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Kyphosis, Osteopetrosis, Platyspondyly OMIM:618476
Rothmund-Thomson Syndrome, Type 2
Short palm, Cryptorchidism, Congenital hip dislocation, Osteoporosis, Short thumb, Micrognathia, ... OMIM:268400
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Apert Syndrome
Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Cervical C5/C6 vertebrae fusi... ORPHA:87
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Hyperactivity, Hemihypotrophy of lower limb, Kyphoscoliosis, Camptodactyly, Hip d... ORPHA:412035
Stankiewicz-Isidor Syndrome
Absent thumb, Pineal cyst, 2-3 toe syndactyly, Sacral dimple, Cryptorchidism, Micropenis, Shawl s... OMIM:617516
Chromosome 10Q26 Deletion Syndrome
Clinodactyly, Toe syndactyly, Small scrotum, Craniosynostosis, Short neck, Cryptorchidism, Microp... OMIM:609625
Cri-Du-Chat Syndrome
Short neck, Cryptorchidism, Pes planus, Short metacarpal, Hyperactivity, Short metatarsal, Metata... OMIM:123450
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Popliteal pterygium, Patellar hypoplasia, Absent tibia, Talipes eq... OMIM:119800
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal T-wave, Hypothyroidism, Osteopenia, Hyperinsulinemia, Delayed ... ORPHA:3464