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Gene: Fbxl4 MGI:2140367

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
F-box and leucine-rich repeat protein 4
Synonyms:
FBL5,  FBL4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Fbxl4 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.

The table below shows human diseases associated to Fbxl4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Decreased activity o... OMIM:615471

The table below shows human diseases predicted to be associated to Fbxl4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Wilson Disease
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun... ORPHA:905
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Slender build, Hyperlordosis ORPHA:352470
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Decreased activity of mitoch... OMIM:618234
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Mitochondrial Complex I Deficiency, Nuclear Type 15
Decreased activity of mitochondrial complex I, Kyphosis, Failure to thrive, Neonatal death OMIM:618237
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M... OMIM:615595
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis... OMIM:615207
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Scoliosis ORPHA:99013
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive OMIM:614602
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Eczema OMIM:620007
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in infancy, Portal... OMIM:613385
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly OMIM:238970
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Scoliosis OMIM:619518
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal... OMIM:301900
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangit... OMIM:308230
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Fetal Akinesia Deformation Sequence 4
Neonatal death, Cryptorchidism, Kyphosis, Short neck OMIM:618393
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity ORPHA:352447
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Scoliosis, Ant... ORPHA:584
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Abnormality of the ver... ORPHA:1163
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive OMIM:304790
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Decreased beta-galactosidase activity, Scoliosis, Anterior beaking of lu... OMIM:230650
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor... ORPHA:186
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Kyphosi... OMIM:203800
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death OMIM:611890
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Winchester Syndrome
Kyphosis OMIM:277950
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Decreased activity of mitochondrial co... OMIM:615084
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis OMIM:618484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Decreased testicular size ORPHA:1875
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat... OMIM:610199
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... ORPHA:549
Subaortic Stenosis-Short Stature Syndrome
Acne, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis ORPHA:3191
Lichen Planopilaris
Hepatitis ORPHA:525
Mcdonough Syndrome
Cryptorchidism, Cachexia, Kyphosis, Scoliosis ORPHA:2471
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Eczema, Cryptorchidism, Kyphosis, Scoliosis ORPHA:352490
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis ORPHA:292
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... ORPHA:454836
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Kyphosis, Hepatitis, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis ORPHA:1855
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni... ORPHA:183675
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Kyphosis, Elevated circulating alani... OMIM:615381
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatospl... ORPHA:231226
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling OMIM:618250
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Decreased testicular size ORPHA:3085
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hepatitis, Cholestasis, Hepatocellular adenoma, Scoliosis, Macro... ORPHA:562
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Obesity, Scoliosis OMIM:618124
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Arthritis, Scoliosis, Chronic otitis media ORPHA:61
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling ORPHA:397744
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Small for gestational age, Scoliosis OMIM:615834
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive OMIM:608776
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic... OMIM:606812
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Sjögren-Larsson Syndrome
Kyphosis, Inflammatory abnormality of the eye, Scoliosis ORPHA:816
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... ORPHA:415
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Sialidosis Type 2
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or... ORPHA:83471
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:2617
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Myasthenia Gravis
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis ORPHA:589
Alg1-Cdg
Kyphosis, Decreased liver function, Scoliosis ORPHA:79327
Baralle-Macken Syndrome
Kyphosis, Obesity OMIM:619255
Rift Valley Fever
Back pain, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious enc... ORPHA:319251
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Premature osteoarthritis, Scoliosis OMIM:130060
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hepatitis, Hashimoto thyroiditis, Weight loss ORPHA:199299
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive ORPHA:536516
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... OMIM:300280
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Kyphosis, Scoliosis OMIM:619797
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi... ORPHA:227990
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... OMIM:615846
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Chronic otitis media, Fail... ORPHA:583
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Scoliosis OMIM:615547
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi... ORPHA:227982
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ... ORPHA:91139
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Obesity, Scoliosis ORPHA:464282
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Fai... ORPHA:349
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Spondyloarthropathy, Susceptibility To, 1
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... OMIM:106300
Flynn-Aird Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:2047
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... ORPHA:73263
15Q24 Microdeletion Syndrome
Small for gestational age, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Failure to thrive ORPHA:94065
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... ORPHA:3260
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Rhizomelic Syndrome, Urbach Type
Kyphosis, Acne, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis OMIM:215600
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, Decreased testicular size OMIM:615433
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Acne, Scoliosis ORPHA:137834
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis OMIM:180870
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Kyphosis, Obesity, Short neck ORPHA:3409
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis OMIM:308240
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Abnormal curvature... ORPHA:93360
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Decreased beta-ga... OMIM:230500
Diastrophic Dysplasia
Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Psoriasiform dermatitis, Enterocolitis OMIM:243150
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Abdominal obesity, Kyphosis, Decreased testicular size OMIM:300354
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Srd5A3-Cdg
Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology ORPHA:324737
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Kyphosis, Scoliosis ORPHA:2075
Pelger-Huet Anomaly
Recurrent otitis media, Kyphosis, Failure to thrive, Eczema OMIM:169400
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Neonatal death, Scoliosis, Decreased activity of m... OMIM:620351
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis, Esophagitis ORPHA:198
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... OMIM:619381
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
19P13.12 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Hepatic steatosis ORPHA:254346
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Cockayne Syndrome Type 2
Hepatomegaly, Cryptorchidism, Kyphosis, Uveitis, Conjunctivitis, Scoliosis ORPHA:90322
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Cryptorchidism, Kyphosis, Abnormal form of t... ORPHA:2311
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Hepatosplenomegaly, Ente... ORPHA:391487
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis ORPHA:98863
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis OMIM:618443
Stickler Syndrome, Type I
Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of ver... OMIM:108300
Harrod Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis ORPHA:2115
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98855
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:248800
Emanuel Syndrome
Sacral dimple, Cryptorchidism, Kyphosis, Recurrent otitis media, Scoliosis, Chronic oral candidia... OMIM:609029
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi... OMIM:253220
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... ORPHA:436252
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Triosephosphate Isomerase Deficiency
Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Fai... OMIM:615512
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Kyphosis, Osteoarthritis, Splenomegaly, Cirrhosis, Vertebral compres... ORPHA:77259
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Slender build, Kyphosis, Scoliosis ORPHA:364028
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis, Platyspondyly... OMIM:177170
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Short neck ORPHA:3082
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology ORPHA:3121
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity, Pancreatitis OMIM:610475
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
15Q14 Microdeletion Syndrome
Kyphosis, Acne, Scoliosis ORPHA:261190
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Short neck, Kyphosis, Obesity, Scoliosis, Decreased testicular size ORPHA:85293
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Short neck, Kyphosis, Splenomegaly, Recurrent ... OMIM:309900
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... ORPHA:509
Gaucher Disease
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis ORPHA:355
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Eczema, Cryptorchidism, Kyphosis, Sco... OMIM:610443
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
Trisomy 13
Cryptorchidism, Kyphosis, Scoliosis ORPHA:3378
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Jaberi-Elahi Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:617988
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Kyphosis, Hepatic fibrosis, Failure to... OMIM:212065
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplen... OMIM:607014
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Decreased activity o... OMIM:615471
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Kyphosis, Scoliosis ORPHA:404440
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Marden-Walker Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:248700
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive ORPHA:500055
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Platyspondyly, Recurrent otitis media, Neonatal death OMIM:616482
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Cryptorchidism, Kyphosis, Scoliosis, Decreased body weight OMIM:619005
Trisomy 20P
Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Recurrent pneumonia, Obesity, Scoliosis OMIM:618493
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Thyroiditis, Scoliosis OMIM:615108
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Osteomyelitis, Scoliosis ORPHA:88628
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cryptorchidism, Kyphosis, Abnormal lactate dehydrogenase level, Scoliosis, Abnormal circulating a... ORPHA:2215
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis OMIM:617602
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus OMIM:619123
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Thyroiditis, Scoliosis OMIM:615109
Koolen-De Vries Syndrome
Vertebral fusion, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:96169
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Distal Triplication 15Q
Hydrocele testis, Kyphosis, Scoliosis, Large for gestational age ORPHA:314588
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Alström Syndrome
Thoracic scoliosis, Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltran... ORPHA:64
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Cryptorchidism, Kyphosis, Scoliosis ORPHA:261250
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Kyphosis, Scoliosis OMIM:619951
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Ab... ORPHA:800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Elevated circulating alkaline phosphatase concentration, Failure to thrive OMIM:239000
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
2P15P16.1 Microdeletion Syndrome
Kyphosis, Failure to thrive, Decreased testicular size, Scoliosis ORPHA:261349
Marshall-Smith Syndrome
Thoracic scoliosis, Failure to thrive, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, ... OMIM:602535
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Cohen Syndrome
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Scoliosis ORPHA:193
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Failure to thrive,... ORPHA:398069
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Scoliosis OMIM:616449
Wolf-Hirschhorn Syndrome
Sacral dimple, Cryptorchidism, Kyphosis, Abnormality of the gallbladder, Abnormal form of the ver... ORPHA:280
Microphthalmia, Lenz Type
Cryptorchidism, Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Alexander Disease
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive, Infectious encephalitis ORPHA:58
Micro Syndrome
Cryptorchidism, Kyphosis, Scoliosis ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Eczema, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoli... OMIM:300966
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Thyroiditis, Scoliosis OMIM:158350
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... ORPHA:319213
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Arthritis, Intervertebral disc degeneration OMIM:203500
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the vertebral colum... ORPHA:1328
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Scoliosis, Otitis media OMIM:618050
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:476126
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Kyphosis OMIM:619244
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Mgat2-Cdg
Kyphosis, Failure to thrive, Reduced level of N-acetylglucosaminyltransferase II, Scoliosis ORPHA:79329
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Prader-Willi Syndrome
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Abdominal obesity, Scoliosis OMIM:176270
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Scoliosis OMIM:301040
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Short neck OMIM:619745
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Cryptorchidism, Kyphosis, Keratoconjunctivitis... ORPHA:536532
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Eczema, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive, Abnorm... ORPHA:464306
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis OMIM:162300
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Cholelithiasis, Scoliosis ORPHA:464738
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Hajdu-Cheney Syndrome
Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Periodontitis... ORPHA:955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive, Abnormality of... ORPHA:464311
Classic Homocystinuria
Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Ramon Syndrome
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Decreased body weight OMIM:266270
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Fused cervical vertebrae, Scoliosi... OMIM:265000
2Q31.1 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Hashimoto thyroiditis OMIM:618223
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Kyphosis, Scoliosis OMIM:277590
Aspartylglucosaminuria
Hepatomegaly, Acne, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of... OMIM:208400
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Kyphosis, Scoliosis OMIM:619718
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Small for gestational age, Eczema, Testicular neoplasm, Hyperlordosis, Cryptorchid... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Small for gestational age, Eczema, Testicular neoplasm, Hyperlordosis, Cryptorchid... ORPHA:363958
Cockayne Syndrome B
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Kyphosis, Severe failure t... OMIM:133540
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive ORPHA:521426
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Poland Syndrome
Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Abnormality o... ORPHA:2911
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:616894
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Elevated hepatic transaminase, Failure to thrive, Osteomyelitis, Overweight, Kyphosis,... OMIM:619475
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Keratoconjunctivitis sicca OMIM:616914
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Large for gestational age, Short neck ORPHA:77301
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Thyroiditis, B... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Thyroiditis, B... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Thyroiditis, B... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Short neck, Kyphosis, Thyroiditis, B... ORPHA:99226
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis, Ch... ORPHA:1507
Mucolipidosis Type Ii
Splenomegaly, Kyphosis, Weight loss, Hepatosplenomegaly, Otitis media ORPHA:576
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Inflammation of the large intestine, Bronchiectasis OMIM:619708
1P36 Deletion Syndrome
Cryptorchidism, Kyphosis, Abnormality of the spleen, Spinal canal stenosis, Obesity, Abnormality ... ORPHA:1606
Frank-Ter Haar Syndrome
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx OMIM:249420
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Eczema, Keratitis, Cryptorchidism, Kyphosis, Cheilitis, Uveitis, Scleritis, Platysp... ORPHA:2273
Stickler Syndrome
Cachexia, Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies,... ORPHA:828
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Cryptorchidism, Kyp... OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build ORPHA:457359
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Cryptorchidism, Kyphosis, Failure to thrive OMIM:216400
Mend Syndrome
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis ORPHA:401973
Mend Syndrome
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis OMIM:300960
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cryptorchidism, Kyphosis, Splenomegaly, Ke... ORPHA:191
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Splenomegaly, Keratoconjunctivitis sicca, ... ORPHA:90324
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Kyphosis, Cheilitis, Azoospermia, Platyspondyly, Arthritis, Periodontitis, Scolio... ORPHA:534
Zttk Syndrome
Absent gallbladder, Kyphosis, Hemivertebrae, Scoliosis, Failure to thrive OMIM:617140
Marden-Walker Syndrome
Kyphosis, Failure to thrive, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Smith-Lemli-Opitz Syndrome
Short neck, Cryptorchidism, Kyphosis, Abnormality of the gallbladder, Abnormal form of the verteb... ORPHA:818
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Cryptorchidism, Lumbar hyperlordosis, Kyphosis ORPHA:2232
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis, Slender build OMIM:300967
Marfan Syndrome
Arthralgia/arthritis, Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:619194
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Kyphosis,... ORPHA:268261
Osteogenesis Imperfecta
Small for gestational age, Cervical kyphosis, Kyphosis, Osteoarthritis, Vertebral compression fra... ORPHA:666
Cdags Syndrome
Kyphosis OMIM:603116
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, Increased circulating lactate dehydrogenase c... OMIM:309000
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Lymphedema-Distichiasis Syndrome
Kyphosis, Conjunctivitis OMIM:153400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Aspiration pneumonia OMIM:619482
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Eczema ORPHA:85199
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Kyphosis, Scoliosis ORPHA:2658
Cowden Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:201
Williams Syndrome
Sacral dimple, Failure to thrive in infancy, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Ab... ORPHA:904
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Proteus Syndrome
Testicular neoplasm, Cachexia, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Sco... ORPHA:744
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the odontoid proce... OMIM:300106
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Wrinkly Skin Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis OMIM:278250
Acromegaly
Kyphosis, Osteoarthritis, Acne, Spinal canal stenosis ORPHA:963
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Neurofibromatosis Type 1
Cryptorchidism, Kyphosis, Scoliosis ORPHA:636
Coffin-Siris Syndrome 1
Sacral dimple, Cryptorchidism, Kyphosis, Scoliosis, Spina bifida occulta OMIM:135900
Somatomammotropinoma
Kyphosis, Osteoarthritis, Spinal canal stenosis ORPHA:314769
Sotos Syndrome
Sacrococcygeal teratoma, Cryptorchidism, Kyphosis, Hydrocele testis, Scoliosis, Prolonged neonata... ORPHA:821
Viss Syndrome
Chronic gastritis, Eczema, Kyphosis, Atopic dermatitis, Scoliosis, Failure to thrive, Butterfly v... OMIM:619472
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis ORPHA:97685
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Kyphosis, Irregular vertebral endplates, Truncal obesit... OMIM:259050
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... OMIM:216340
Branchiooculofacial Syndrome
Cryptorchidism, Hyperlordosis, Kyphosis, Short neck OMIM:113620

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbxl4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbxl4.

No publications found that use IMPC mice or data for Fbxl4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fbxl4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fbxl4em1(IMPC)Mhzh Indel Mice

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