Gene Summary

Name:
BTB domain containing 7
Synonyms:
FUP1,  5730507E09Rik,  E130118E17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lung elastance Btbd7em1(IMPC)Ccpcz HOM   Early adult 6.54×10-07
hydrometra Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Btbd7em1(IMPC)Ccpcz HOM Early adult 3.97×10-05
microphthalmia Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
increased lung compliance Btbd7em1(IMPC)Ccpcz HOM Early adult 3.61×10-05
abnormal eye morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal inspiratory capacity Btbd7em1(IMPC)Ccpcz HOM Early adult 2.73×10-08
abnormal thymus morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 2.70×10-05
enlarged thymus Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
lordosis Btbd7em1(IMPC)Ccpcz HOM   Early adult 5.70×10-06

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Btbd7 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 Btbd7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia,... OMIM:615524
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Abnormal epiphysis morphology, Bowing of the long bones, Metaphyseal chondrodysplasia,... ORPHA:2501
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones, Bea... ORPHA:40
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, 2-... OMIM:206920
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Talipes equinovarus, Short neck, Ambiguous genitalia, Microphthalmia, ... OMIM:613885
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Split foot ORPHA:3434
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver... OMIM:609223
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal morphology of female internal geni... ORPHA:3378
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Platyspondyly, Hump-shaped mound of bone in central and posterior portion... ORPHA:99642
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Scoliosis, Cryptorchidism ORPHA:408
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries, Brachydactyly,... ORPHA:3085
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Genu valgum, Beaking of vertebral bodie... ORPHA:1159
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal hip bone morphol... ORPHA:577
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Ovoid vertebral bodies, Cu... OMIM:617396
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Anophthalmia, Abn... ORPHA:2470
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Microphthalmia OMIM:613094
Fibular Hemimelia
Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormality o... ORPHA:3130
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... OMIM:251450
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Crisponi/Cold-Induced Sweating Syndrome 2
Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, ... OMIM:610313
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Short stature ORPHA:31
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Elbow flexion contracture, Hip contracture, Talipes equinovarus, Hyperlordosis, Scoliosis, Kyphosis OMIM:600175
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Hip contracture, Scapular winging, Narrow pelvis bone, Scoliosis OMIM:602484
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, ... ORPHA:2310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hemiverte... ORPHA:77298
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elbow flexion contracture, Lumbar hyperlordosis, Abnormality of the shoul... ORPHA:206546
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Failure to thrive, Ca... ORPHA:1617
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Joubert Syndrome 37
Decreased testicular size, Obesity, Lumbar hyperlordosis, Cryptorchidism, Postaxial polydactyly, ... OMIM:619185
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hyperlordosis, Cryptorchidism, Abnormal mitral valve morphology ORPHA:1192
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Failure to thrive, Elbow dislocation, Short thumb, Abnormal morphology of the ... ORPHA:2538
Cataract-Intellectual Disability-Hypogonadism Syndrome
Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Cryptorchidism, Hypogona... ORPHA:1387
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age, Microphthalmia ORPHA:2432
Pierpont Syndrome
Failure to thrive, Prominent fingertip pads, Short toe, Short finger, Cryptorchidism, Decreased b... OMIM:602342
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ... OMIM:184250
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, Cr... OMIM:601186
Masa Syndrome
Hyperlordosis, Talipes equinovarus, Kyphosis, Adducted thumb OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Left ventricular hypertrophy, Hyperlordosis, Micropenis, Scoliosis, Hip dislocation OMIM:613156
Rigid Spine Syndrome
Elbow flexion contracture, Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Talipes equinovarus, Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Hypo... OMIM:615761
Pierpont Syndrome
Prominent fingertip pads, Short toe, Short finger, Excessive wrinkling of palmar skin, Cryptorchi... ORPHA:487825
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hip dislocation, Obesity, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Kyphosis OMIM:616756
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Hip dysplasia, Hyperlordosis, Shoulder girdle muscle weakness ORPHA:363454
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Obesity, Genu valgum, Small epiphyses, Hip contracture, Kyphoscoliosis, Hyperlordosis,... OMIM:618363
Congenital Toxoplasmosis
Failure to thrive in infancy, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytope... ORPHA:858
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, Prox... ORPHA:139471
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transverse palmar creases, Abno... ORPHA:2511
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Patellar hypoplasia, Hypogonadism, Decreased testicular size, External genital hypopla... ORPHA:3041
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Talipes equinovarus, Hyperlordosis, Scapular winging, Hip dysplasia, Scoliosis, ... OMIM:615290
Hydrolethalus
Micromelia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology, Postaxial hand poly... ORPHA:2189
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Ventric... ORPHA:93267
Mucopolysaccharidosis, Type Iva
Platyspondyly, Constricted iliac wing, Anterior beaking of lumbar vertebrae, Hypoplasia of the od... OMIM:253000
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... OMIM:615222
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Dysplasia of the femora... ORPHA:93284
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Familial Anetoderma
Abnormal tibia morphology, Lumbar hyperlordosis ORPHA:228277
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Absent radius, Fibular aplas... ORPHA:3320
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu valgum, Limited elbo... OMIM:618870
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Variant Abeta2M Amyloidosis
Chronic kidney disease, Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Failure to thrive, Elbow dislocati... OMIM:264180
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Atrial septal defect, Microphthalmi... ORPHA:3469
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of... OMIM:114300
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Microphthalmia, Hypos... ORPHA:141333
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Anophthalmia, Hepatomegaly, Scoliosis, Kyphosis ORPHA:90322
Trisomy 1Q
Small scrotum, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Cryptorchidism... ORPHA:261344
King-Denborough Syndrome
Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Ventricular se... OMIM:619542
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis, Hip contracture OMIM:619042
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Scapular winging, Spinal rigidity OMIM:618524
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh... OMIM:255800
Nemaline Myopathy 5C, Autosomal Dominant
Shoulder girdle muscle weakness, Slender build, Hyperlordosis, Scapular winging, Scoliosis OMIM:620389
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Ck Syndrome
Slender build, Abnormal digit morphology, Hyperlordosis, Scoliosis, Kyphosis OMIM:300831
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short neck, Limb undergro... ORPHA:1803
Myopathy, Distal, 1
Dilated cardiomyopathy, Lumbar hyperlordosis, Left atrial enlargement, Scoliosis, Weakness of lon... OMIM:160500
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Three M Syndrome 1
Short 5th finger, Small for gestational age, Slender long bone, Decreased testicular size, Hypopl... OMIM:273750
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... ORPHA:1797
Martsolf Syndrome 1
Broad femoral neck, Short toe, Cardiomyopathy, Slender ulna, Avascular necrosis of the capital fe... OMIM:212720
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, External genital hypoplasia, Cryptorchidism, Kyphoscoliosis, ... OMIM:600118
Gm1 Gangliosidosis
Platyspondyly, Coarse metaphyseal trabecularization, Failure to thrive, Cardiomyopathy, Abnormal ... ORPHA:354
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Hepato... ORPHA:175
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy, Slender build, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:161800
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin... OMIM:608728
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Shoulder flexion contracture, Failure to thrive, Elbow flexion con... ORPHA:536516
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... OMIM:300280
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Kyphoscoliosis OMIM:300886
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Brachydactyly, Sh... OMIM:146000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Hyposp... ORPHA:2522
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Hepatomegaly, Atrial sep... ORPHA:290
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular muscle atrophy, Elbow flexion contracture, Wrist flexion contracture, Hyperlordosis, Sca... ORPHA:267
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greate... OMIM:602271
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mu... OMIM:223800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Microphthalmia, Cryptorchidism, Ventricular septal defect OMIM:613730
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Talipes... ORPHA:99776
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia OMIM:616570
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Situs inversus totalis, ... ORPHA:564
Anauxetic Dysplasia 1
Aortic valve stenosis, Hypoplastic ilia, Rhizomelia, Atlantoaxial dislocation, Platyspondyly, Sho... OMIM:607095
Gracile Bone Dysplasia
Failure to thrive, Slender long bone, Flared metaphysis, Ascites, Aniridia, Brachydactyly, Microp... OMIM:602361
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Platyspondyly, Hypoplasia of the odontoid process,... OMIM:253010
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Ck Syndrome
Slender build, Lumbar hyperlordosis, Kyphoscoliosis, Long toe, Long fingers ORPHA:251383
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Increased vertebral height, Cryptorchidism, Down-sloping shoulders... OMIM:616817
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Cryptor... OMIM:244300
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Micromelia, Hypopla... ORPHA:2616
Achondroplasia
Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Cervical spinal canal sten... ORPHA:15
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Cryptorchidism, Hyperlo... ORPHA:568
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal defect, Talipes equinovarus, ... OMIM:619980
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Abnormality of the cervical spine, Finger joint contracture, Micro... ORPHA:48431
Camurati-Engelmann Disease
Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dysplasia, Abnormal ... ORPHA:1328
Cohen Syndrome
Decreased response to growth hormone stimulation test, Leukopenia, Genu valgum, Lumbar hyperlordo... OMIM:216550
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Abnormal form of the vertebral bodies, Bilateral microp... ORPHA:2839
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Obesity, Bilateral single transverse palmar creases, Biliary tract ab... ORPHA:3191
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Slender long bone, Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersple... OMIM:613385
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Clinodactyly, 2-3 toe syndactyly, Hyperlordosis, Scoliosis OMIM:617352
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral hypoplasia, Butterfly vertebrae, Cryptorchidism, Anophthalmia, Ven... OMIM:206900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Aniridia, Cryptorchidism, Anophthalmia, Tricu... ORPHA:1101
Cofs Syndrome
Hypogonadism, Short neck, Camptodactyly of finger, Microphthalmia ORPHA:1466
Infantile Sialic Acid Storage Disease
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Met... OMIM:269920
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th fing... OMIM:619451
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis ORPHA:352470
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... OMIM:169550
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Glandular hypospadias, B... ORPHA:1439
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Cryptorchidism, Anophthalmia, Abnor... ORPHA:3412
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Scapular winging, Thoracic scoliosis ORPHA:62
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ... OMIM:615155
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Lumbar scoliosis, Talipes equinovarus, Thoracic scoliosis, Microphthalmia OMIM:616171
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Vertebral segmentation defect ORPHA:1104
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs... OMIM:239850
Roifman Syndrome
Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture,... OMIM:616651
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... OMIM:300166
Jansen-De Vries Syndrome
Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Hyperlordosis, Short... OMIM:617450
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis, Patent foramen ovale, Shoulder girdle muscle weakness OMIM:615156
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Hyperlordosis, ... ORPHA:970
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Lumbar hyperlordosis, Brachydactyly, Short thumb OMIM:165800
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Microphthalmia, Leukemia, Syndactyly OMIM:602501
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Abnormal heart morphology, ... OMIM:610758
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Overlapping fingers, Crypto... OMIM:618494
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Hemi... OMIM:619318
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Microphthalmia ORPHA:363741
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Small scrotum, Congenital hip dislocation, Toe syndactyly, Prominen... OMIM:609625
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot, Microphthalmia OMIM:601349
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Elbow flexion contracture, Limited elbow movement, Talipes equinovaru... OMIM:615065
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Scapular winging, Scoliosis, Right ventricu... ORPHA:353
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Scoliosis, Obesity, Genu valgum, ... OMIM:250420
Usmani-Riazuddin Syndrome, Autosomal Dominant
Short finger, Lumbar hyperlordosis, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Thoracic ... OMIM:619467
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Shoulder girdle muscle weakness OMIM:610687
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Cardiomyopathy, Spinal rigidity OMIM:609308
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling... OMIM:619135
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Cryptorchidism, Ventricular septal ... ORPHA:251014
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
14Q22Q23 Microdeletion Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anop... ORPHA:264200
Holoprosencephaly
Abnormal form of the vertebral bodies, Tetralogy of Fallot, Panhypopituitarism, Abnormality of th... ORPHA:2162
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Hip contracture, Talipes equinovarus, Left ventricular hypertrop... ORPHA:169186
Nemaline Myopathy 2
Hand clenching, Slender build, Hyperlordosis, Thenar muscle atrophy, Scoliosis, Spinal rigidity OMIM:256030
Mucolipidosis Iii Gamma
Aortic valve stenosis, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capi... OMIM:252605
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Shoulder girdle muscle weakness, Nocturnal hypoventilation, Hyperlordosis... OMIM:607155
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Absent thumb, Short 1st metacarpal, Short thumb, Decreased response ... OMIM:609053
Three M Syndrome 3
Slender long bone, Increased vertebral height, Decreased body weight, Short neck, Prominent calca... OMIM:614205
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Lumbar hyperlordosis, Triceps weakness, Left ventricular hypertrophy, Scoliosis, ... ORPHA:86812
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Camptodactyly of finger, Kyphoscoliosis, Microphthalmia, Micropenis, Rocker bottom... OMIM:610756
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Cryptorchidism, T... OMIM:609945
Melioidosis
Pneumonia, Parotitis, Respiratory tract infection, Acute infectious pneumonia, Lung abscess, Abno... ORPHA:31202
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Short thumb, Microphthalmia OMIM:609054
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Cryptorchi... ORPHA:404440
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short 5th finger, Slender finger, Small hand, Obesity, Genu valgum, Thoracolumbar scoliosis, Hype... OMIM:618443
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Pycnodysostosis
Small hand, Rhizomelia, Spondylolysis, Short finger, Decreased response to growth hormone stimula... ORPHA:763
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancr... OMIM:618805
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Absent thumb, Failure to thrive, Microphallus, Short thumb, Decrease... OMIM:603467
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Seco... OMIM:214150
Scapuloperoneal Spinal Muscular Atrophy
Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, Hyperlordosis, Scapular w... OMIM:181405
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Hyperlordosis, Spinal rigidity ORPHA:157973
Walker-Warburg Syndrome
Metatarsus valgus, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis ORPHA:899
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Abnormal heart valve morphol... ORPHA:582
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Dilated cardiomyopathy, Failure to thrive, Lumbar hyperlordosis, Scol... OMIM:255310
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Hemivertebrae, Postaxial hand polydactyly, Microphthal... ORPHA:85284
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Ascites, Lumbar hyperlordos... ORPHA:2848
Nanophthalmos
Microphthalmia ORPHA:35612
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Platyspondyly, Irregular acetabular roof, Thickened aortic valve cusp, Gen... OMIM:619698
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abn... ORPHA:93476
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Kyphosis, Splenomegaly, Flared iliac wing, Hepatomegaly, S... OMIM:230650
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hyperlordosis, Hepatic steatosis ORPHA:369840
Cockayne Syndrome Type 1
Male hypogonadism, Failure to thrive, Cryptorchidism, Anophthalmia, Hepatomegaly, Anemia, Scoliosis ORPHA:90321
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Atrial septal defect, Microphth... ORPHA:261272
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ... OMIM:235200
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Myopathy, Centronuclear, 2
Talipes equinovarus, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis OMIM:255200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism, Microphthalmia OMIM:601794
Cohen Syndrome
Finger syndactyly, Sandal gap, Failure to thrive in infancy, Obesity, Genu valgum, Abnormal hip b... ORPHA:193
Marden-Walker Syndrome
Joint contracture of the hand, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Radioulnar sy... OMIM:248700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodi... OMIM:600462
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hyperlordo... ORPHA:710
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Fanconi Anemia, Complementation Group S
Failure to thrive, Clinodactyly, Ovarian carcinoma, Microphthalmia, Anemia, Ovarian neoplasm, Pro... OMIM:617883
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic... ORPHA:1692
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Back pain OMIM:618129
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Slender finger, Anisospondyly, Hemiatrophy of upper limb, Thoracic kyphosis, Ovoid... ORPHA:163649
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Pec... OMIM:136760
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... OMIM:609441
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Schimke Immunoosseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Bilateral cryptorchidism, Hypoplasia of the capital fem... OMIM:242900
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Anencephaly 2
Anophthalmia OMIM:619452
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Kyphosis, Elbow flexion contract... ORPHA:98855
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Sc... OMIM:167320
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Kyphosis, Hypertrophic cardiomyopathy, Elbow flexion con... ORPHA:98863
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Neutropenia, Short foot,... ORPHA:93357
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyo... ORPHA:98853
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Platyspondyly, Broad thumb, Monkey wrench femoral neck, L... OMIM:615777
Adams-Oliver Syndrome
Short distal phalanx of finger, Failure to thrive, Finger syndactyly, Tetralogy of Fallot, Ascite... ORPHA:974
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Spinal rigidity, Platyspondyly, Kyphosis, ... ORPHA:94068
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Microphthalmia... OMIM:600901
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Lumbar hyperlordosis,... ORPHA:435387
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, T... OMIM:619151
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ascite... OMIM:616897
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Atrial septal defect, Microphthalmia OMIM:300887
Al Amyloidosis
Nephrotic syndrome, Xerostomia, Abnormal pulmonary interstitial morphology, Renal insufficiency, ... ORPHA:85443
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Ventricular septal defect, ... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle weakness, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Oculoskeletodental Syndrome
Short 5th finger, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hyperlordosis, Metap... ORPHA:557003
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger synd... OMIM:615877
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Congenital hip dislocation, Hypoplasia of the odontoid process, ... OMIM:616007
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Slender finger, Small hand, Broad thumb, Broad hallux, Decreased testicular size, External genita... ORPHA:251028
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormally large globe, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosp... ORPHA:1655
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging OMIM:616228
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Wieacker-Wolff Syndrome
Kyphosis, Talipes equinovarus, Short neck, Hyperlordosis, Palmar hyperkeratosis, Camptodactyly, S... OMIM:314580
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Failure to thrive, Hyper... ORPHA:2556
Congenital Myopathy 8
Cardiomegaly, Scoliosis OMIM:618654
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Three M Syndrome 2
Short 5th finger, Slender long bone, Clinodactyly, Lumbar hyperlordosis, Short neck, Prominent ca... OMIM:612921
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Cardiomyopathy, Hepatic steatosis, Abnormal long bone morpho... ORPHA:52430
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
3P25.3 Microdeletion Syndrome
Broad thumb, Scoliosis, Broad hallux, Sacral dimple, Overlapping toe, Ventricular septal defect, ... ORPHA:435638
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Oculofaciocardiodental Syndrome
Short thumb, Genu valgum, Flexion contracture of the 4th toe, Mitral valve prolapse, 2-3 toe synd... ORPHA:2712
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Typical Nemaline Myopathy
Kyphosis, Nocturnal hypoventilation, Genu valgum, Short neck, Hyperlordosis, Genu varum, Scoliosi... ORPHA:171436
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Failure to thrive, Cryptorchidism, Bicuspid aortic valve, Short neck, Dupl... OMIM:243310
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Absent thumb, Short thumb, Absent radius, Pancytopenia, Microphthalm... OMIM:227645
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Fucosidosis
Anterior beaking of thoracic vertebrae, Failure to thrive, Cervical platyspondyly, Lumbar hyperlo... OMIM:230000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... OMIM:215150
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones,... ORPHA:800
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cryptorchidism, Complete atrioventricular canal defect, Ventricular s... OMIM:264480
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Prominent fingertip pads, Mitral valve prolapse, Arachnodactyly, Atrial septal... OMIM:300986
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Microphthalmia... OMIM:227650
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies, Cryptorchidism, Bilateral ... ORPHA:794
Nanophthalmos 4
Microphthalmia OMIM:615972
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... OMIM:256550
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... OMIM:617796
Stevenson-Carey Syndrome
Joint contracture of the hand, Central hypoventilation, Atrial septal defect, Microphthalmia, Cam... OMIM:611961
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Hypoplasia of the odontoid process, ... OMIM:250250
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Small hypothenar eminence, Kyphosis, Aplasia/hypoplasia of the uterus, Non... ORPHA:2232
Rere-Related Neurodevelopmental Syndrome
Scoliosis, Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Microphthalmia, ... ORPHA:494344
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Bilateral single transverse palmar creases, Per... OMIM:618804
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Bowing of the long bones, Aplasia of the uterus, Po... OMIM:619879
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microphthalmia OMIM:278780
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Ventricul... OMIM:146510
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Kyphoscoliosis, Cardiome... ORPHA:324410
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microphthalmia OMIM:274270
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, Thoracic kyphosc... ORPHA:313892
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... ORPHA:85167
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Failure to thrive, Clinodactyly of the 5th finger, Cryptorchidism, T... ORPHA:250989
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Ventricula... ORPHA:1926
Focal Dermal Hypoplasia
Toe syndactyly, Supernumerary nipple, Cryptorchidism, Anophthalmia, Microphthalmia, Foot polydact... OMIM:305600
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Abnormal heart morphology, Cutaneous finger synda... OMIM:219000
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Hypoplasia of penis, Camptodactyly of finger, ... ORPHA:2547
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Scoliosis, Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Cardiomyopathy,... OMIM:253200
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... ORPHA:77258
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Hypoplasia of the t... OMIM:617022
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorte... OMIM:300863
Myopathy, Scapulohumeroperoneal
Scapular winging, Scoliosis, Hyperlordosis, Hand muscle atrophy OMIM:616852
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Failure to thrive, Micronodular cirrhosis, Hepatosplenome... OMIM:606003
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Increased he... OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Obesity, Genu valgum, Limited elbow exten... OMIM:301066
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Charge Syndrome
Bifid femur, Bifid scrotum, Abnormal morphology of female internal genitalia, Tetralogy of Fallot... ORPHA:138
Microphthalmia, Syndromic 13
Kyphoscoliosis, Microphthalmia OMIM:300915
Myopathy, Centronuclear, 1
Hyperlordosis, Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy OMIM:160150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Patent foramen... ORPHA:369891
Neurofibroma
Intestinal bleeding, Enlargement of parotid gland, Neoplasm of the trachea, Neoplasia of the pleu... ORPHA:252183
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip... OMIM:184100
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of proximal int... OMIM:190350
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... ORPHA:2789
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... OMIM:252920
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Lumbar kyphosis in infancy, Femoral bowing, Limited... OMIM:100800
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Cholelithiasis, Finger syndactyly, Male urethral meatus stenosis, Cl... ORPHA:464738
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Short thumb, Bifid scrotum, Overlapping toe, Distally placed thumb, Cr... OMIM:619148
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Microphthalmia, Anemia, Scoliosis OMIM:617244
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Cryptorchidism, Patellar apl... ORPHA:3103
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Splenomegaly, Microphthalmia, Short metacarpal, Ha... ORPHA:773
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Vertebral segmentati... OMIM:612530
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Hypoventilation, Thoracic s... ORPHA:79330
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Talipes equinovar... OMIM:245600
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Lumbar hyperlordosis, Scoliosis, Limited elbow extension OMIM:619719
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Hyperlordosis, Clinodactyly of the 5... ORPHA:3068
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Lumbar hyp... OMIM:183900
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C... ORPHA:79301
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive OMIM:614096
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Bone marrow hypocellularity, Shallow acetabular fossae, Abnormal proportion of nai... ORPHA:1830
Kapur-Toriello Syndrome
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Shor... ORPHA:2328
Frontorhiny
Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Lumbar hyperlordosis, Brachydactyl... ORPHA:391474
Spondylo-Ocular Syndrome
Platyspondyly, Ventricular septal defect, Short neck, Aplasia/Hypoplasia of the lens, Microphthal... ORPHA:85194
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Weight loss, Lymp... OMIM:209950
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4... OMIM:618914
Braddock-Carey Syndrome 2
Clinodactyly, Thrombocytopenia, Microphthalmia OMIM:619981
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Radial deviat... OMIM:305450
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... ORPHA:1798
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... OMIM:616589
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
3Mc Syndrome
Caudal appendage, Supernumerary nipple, Bilateral cryptorchidism, Radioulnar synostosis, Prominen... ORPHA:293843
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Weight loss, At... ORPHA:84
Kaposiform Lymphangiomatosis
Fractures of the long bones, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, H... ORPHA:464329
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Scoliosis, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Lumbar hyperlord... OMIM:607944
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, H... ORPHA:465508
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Hypoventilation, Hyperlordosis, Scoliosis OMIM:310200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypo... ORPHA:163966
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Amyotrophic Lateral Sclerosis 27, Juvenile
Intrinsic hand muscle atrophy, Scoliosis, Hyperlordosis, Scapular winging OMIM:620285
Seckel Syndrome 2
Clinodactyly of the 5th finger, Hypospadias, Small for gestational age, Microphthalmia OMIM:606744
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Microphthalmia, Annular pancr... OMIM:227646
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Seckel Syndrome 7
Madelung deformity, Lumbar scoliosis, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia o... OMIM:614851
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Obesity, Genu valgum, Splenomegaly, Ventricular septal defect, Bra... OMIM:615630
Mend Syndrome
Aortic valve stenosis, Failure to thrive, Broad hallux, Abnormal heart morphology, Overlapping to... ORPHA:401973
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Short neck, Hyperlo... ORPHA:3218
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Vertebral wedging, Cardiac rhabdomyoma, Cardiac f... OMIM:109400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited elbow movemen... ORPHA:268
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defect, Bicuspid aortic ... ORPHA:508498
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Microspherophakia, Broad phalanges of the hand, Spinal canal stenosis, Lum... OMIM:277600
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hepatic steatosis, Splenomegaly, Hyperlordosis, Hepatomegaly, Scoliosis, Spina... OMIM:613327
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Failure to thrive, Clinodactyly, Prominent fingertip pads, Sandal g... ORPHA:96148
Fraser Syndrome
Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap... ORPHA:2052
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... ORPHA:848
Ring Chromosome 10 Syndrome
Sandal gap, Short neck, Cachexia, Microphthalmia, Tapered finger