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Gene: Pmm2 MGI:1859214

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Gene Summary

Name:
phosphomannomutase 2
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Pmm2tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased blood urea nitrogen level Pmm2tm1b(EUCOMM)Hmgu HET Early adult 3.86×10-05
enlarged lymph nodes Pmm2tm1b(EUCOMM)Hmgu HET Early adult 0.00
embryonic lethality prior to organogenesis Pmm2tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
preweaning lethality, complete penetrance Pmm2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 7)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 7)
Embryo N/A heterozygote 0.0% (0 of 7)
Eye N/A heterozygote 0.0% (0 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 0.0% (0 of 7)
Forelimb N/A heterozygote 0.0% (0 of 7)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 0.0% (0 of 7)
Hindbrain N/A heterozygote 0.0% (0 of 7)
Hindlimb N/A heterozygote 0.0% (0 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A heterozygote 0.0% (0 of 7)
Midbrain N/A heterozygote 0.0% (0 of 7)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 7)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 7)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

28 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Pmm2 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 Pmm2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogon... OMIM:212065
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hypo... ORPHA:79318

The table below shows human diseases predicted to be associated to Pmm2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Spastic paraplegia, Upper limb spastici... OMIM:611225
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... OMIM:616471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Myasthenic Syndrome, Congenital, 25, Presynaptic
Severe muscular hypotonia, Spinal rigidity, Kyphosis, Flexion contracture, Hypotonia, Myopathy, G... OMIM:618323
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Generalized hypotonia, Dystonia, Ne... OMIM:618237
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper... OMIM:617404
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Hypotonia, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Hypertr... OMIM:618234
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Kyphosis, Appendicular hypotonia, Facial myokymia, Failure to thrive OMIM:620007
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Elevated circu... OMIM:615290
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... ORPHA:75840
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Dystonia, Kyphosis, Hypotonia, Obesity, Generalized ... OMIM:616756
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Increased serum serotonin ORPHA:85288
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Hypotonia, Obesity, Scoliosis, Generalized hypotonia, Micropenis, Delayed puberty, Sche... OMIM:301900
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Elevat... OMIM:606612
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... ORPHA:98863
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98853
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Alg1-Cdg
Renal insufficiency, Kyphosis, Hypotonia, Abnormal heart morphology, Nephrotic syndrome, Cardiomy... ORPHA:79327
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Generalized... OMIM:208085
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypotonia, Hypertonia, Left ventricular noncompac... OMIM:617228
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Kyphosis, Abnormal heart morphology, Congenital contracture, Hypertoni... ORPHA:352490
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Kyphosis, Congenital muscular dystrophy, Hypotonia ORPHA:1875
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty ORPHA:2598
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... OMIM:300280
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Short neck, Kyphosis, Facial diplegia, Scoliosis, Generalized ... OMIM:611890
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypotonia, Hypertonia, Left ventricular noncompaction, Hyperalaninemia... OMIM:615917
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:619040
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypotonia, Scoliosis, Obesity ORPHA:276630
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase con... OMIM:248800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide ant... OMIM:619064
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulatin... OMIM:615084
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis,... ORPHA:3191
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... OMIM:607155
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Urinar... ORPHA:464282
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia, Limb dystonia ORPHA:319199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... OMIM:618393
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Spas... ORPHA:349
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Wide anterior fontanel, Hypotonia, Increased circulating very long-chain fatty acid... OMIM:614859
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypospadias, Hypotonia, Scoliosis ORPHA:1548
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Typical Nemaline Myopathy
Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity,... ORPHA:171436
Baralle-Macken Syndrome
Urinary incontinence, Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity OMIM:619255
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... ORPHA:3032
Sialidosis Type 2
Skeletal muscle atrophy, Hepatomegaly, Kyphosis, Splenomegaly, Flexion contracture, Generalized h... ORPHA:87876
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Hypotonia, Obesity, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Urinary incontinence, Kyphosis, Spastic paraplegia, Upper limb spasticity,... OMIM:614409
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice OMIM:618512
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... ORPHA:26791
Masa Syndrome
Kyphosis, Spastic paraplegia, Lower limb spasticity, Hyperlordosis OMIM:303350
Ck Syndrome
Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build OMIM:300831
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an... OMIM:113000
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar... OMIM:230650
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... OMIM:252605
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Truncal obesity, Scoliosis ORPHA:2429
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Neonatal hypotonia, Spinal rigidity, Centr... OMIM:620351
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Generalized hypotonia, Arthrogryposis... OMIM:615834
15Q24 Microdeletion Syndrome
Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Decreased response to gr... ORPHA:94065
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Generalized hypotonia OMIM:618658
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal muscle tone, Scoliosis ORPHA:505652
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Severe muscular hypotonia, Wide anterior fontanel, Renal cyst, Mul... OMIM:614883
Kleefstra Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis OMIM:617768
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia,... ORPHA:254346
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
3C Syndrome
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Sh... ORPHA:7
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hypospadias, Kyphosis, Hypotonia, Macroglossia, Abdominal obesity, ... OMIM:300354
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Wide anterior fontanel, Enlarged kidney OMIM:618272
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Dextrocardia, Short neck, Kyphosis, Wide anterior fontanel, R... OMIM:248700
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypotonia, General... OMIM:130060
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Flexion contracture, Obesity, Hypogonadism, Scoliosis, Ca... OMIM:615547
Winchester Syndrome
Kyphosis OMIM:277950
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia OMIM:614898
Emanuel Syndrome
Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmat... OMIM:609029
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypotonia, Macroglossia, Type II diabetes melli... ORPHA:61
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Small for gestational age, Short neck, Wide anterior fon... OMIM:606003
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Dilated cardio... OMIM:230500
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:616455
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis... ORPHA:48431
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hypotonia, Hyperlordosis... ORPHA:354
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Wide anterior fontanel, Abnormal form of the vertebral bodies, Pulmonic ste... ORPHA:3098
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Kyphosis, Hypertonia, Scoliosis, Dystonia, Spasticity OMIM:617435
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hypotonia, Hydronephrosis, Scoliosis OMIM:619797
Sjögren-Larsson Syndrome
Kyphosis, Hypotonia, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Ventricular septal defect, Secundum atrial septal defect, K... OMIM:619909
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Wide anterior fontanel, Hypotonia, Renal tubular dysfunction, Hype... OMIM:614886
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal in... ORPHA:2047
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Hypotonia, Scoliosis OMIM:300676
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Congenital foot contractu... OMIM:314580
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperec... ORPHA:456312
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe... ORPHA:3085
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Distal 16P11.2 Microdeletion Syndrome
Neonatal hypotonia, Proteinuria, Kyphosis, Chronic kidney disease, Obesity, Hyperuricemia, Vesico... ORPHA:261222
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Kyphosis, E... OMIM:615381
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... OMIM:613179
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogon... OMIM:212065
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Hypotonia, Left ventricular nonc... OMIM:619167
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Ventricular septal defect, Kyphosis... OMIM:603387
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Short neck, Kyphosis, Abnormality of the ureter, Ob... ORPHA:3409
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, Congenital diaphra... ORPHA:2311
Trisomy 13
Ventricular septal defect, Kyphosis, Abnormality of the ureter, Hypotonia, Multiple renal cysts, ... ORPHA:3378
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Lumbosacral men... OMIM:608022
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Macr... ORPHA:583
X-Linked Intellectual Disability Due To Gria3 Mutations
Axial hypotonia, Facial hypotonia, Kyphosis, Spasticity, Scoliosis, Micropenis, Abnormality of mu... ORPHA:364028
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Kyphosis, Increased ur... ORPHA:812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me... ORPHA:2075
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Atypical Rett Syndrome
Kyphosis, Hypotonia, Abnormal muscle tone, Scoliosis, Dystonia, Neonatal hypotonia, Spasticity ORPHA:3095
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Dystonia, Spasticity, Infantile muscular hypotonia, Limb hypertonia ORPHA:500180
Pelger-Huet Anomaly
Ventricular septal defect, Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor w... OMIM:169400
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Hypotonia, Horseshoe kidney, Abnormal h... ORPHA:314588
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Urinary incontinence, Short neck, Kyphosis, Achilles tendon contra... OMIM:301041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Hypotonia, Platyspondyly, Atrial septal defect ORPHA:2655
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K... OMIM:618291
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Elevated circulating calcitonin... OMIM:162300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, Scoliosis, Cong... OMIM:108145
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Micropenis, Hypotonia OMIM:615433
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circula... OMIM:219090
Shashi-Pena Syndrome
Unilateral renal agenesis, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect, Cervical C2/C3 v... OMIM:617190
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Spasticity, Scoliosis OMIM:610743
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Thoracolumbar scolios... OMIM:610199
Thanatophoric Dysplasia Type 2
Atrial septal defect, Kyphosis, Platyspondyly, Hypotonia ORPHA:93274
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Dias... OMIM:253220
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Pericardial effusion, Kyphosis, Hypersplenism, Splenomegaly, Hematuria... ORPHA:77259
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Bicuspid aortic valve, Hypospadias, Kyphosis, Hypotonia, ... ORPHA:96169
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sh... ORPHA:99776
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Kyphosis, Hypotonia, Scoliosis, Dystonia, Spasticity ORPHA:702
Frank-Ter Haar Syndrome
Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Spinal canal stenosis, Obesity, Infantile... ORPHA:15
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Urinary incontinence, Kyphosis, Arm dystonia, Sco... ORPHA:88644
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial ... ORPHA:508533
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Small for gest... OMIM:610443
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Unilateral renal agenesis, Secundum atrial septal defect, Kyphosis, Hypo... OMIM:619951
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... ORPHA:1724
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect, Spa... OMIM:616449
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Wide anterior fontanel, Kyphosis, Hypotonia, Platyspondyly,... ORPHA:1860
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Neonatal hypotonia, Axial hypotonia, Ventricular septal defect, Left ventricular noncompaction ca... OMIM:300967
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Ve... ORPHA:2461
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H... ORPHA:628
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Dystonia, Kyphosis, Jaundice, Splenomegaly, Hypotonia, Myopathy, Cholecy... OMIM:615512
Magel2-Related Prader-Willi-Like Syndrome
Neonatal hypotonia, Premature pubarche, Precocious puberty, Kyphosis, Flexion contracture, Increa... ORPHA:398069
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... ORPHA:1332
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... OMIM:219080
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Kyphosis, A... ORPHA:324737
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Spast... OMIM:301040
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Hypotonia, Abnormal heart morphology, Scoliosis ORPHA:404440
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Axial hypotonia, Kyphosis, Flexion contracture, Scoliosis, M... ORPHA:90322
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex c... OMIM:617143
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Wide anterior fontanel, Splenomegaly, Hypothyroidism, Micropenis, Hepa... OMIM:613673
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Kyphosis, Hypotonia, Scoliosis, Atrial septal defect OMIM:617061
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Bicuspid aortic valve, Ventricular s... OMIM:130720
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Hypotonia, Hypogonadism, Scoliosis, Neonatal hypotonia... ORPHA:500055
4Q21 Microdeletion Syndrome
Kyphosis, Hypotonia, Scoliosis, Short neck ORPHA:238750
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Cam... OMIM:617602
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Hypotonia, Obesity, Scoliosis, Sp... OMIM:618443
Hurler Syndrome
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,... OMIM:607014
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the v... ORPHA:2789
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Obesity, Platyspondyly, Scoliosis, Generalized hy... OMIM:251450
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Spastic paraplegia, Distal amyotrophy, Scoliosis OMIM:609541
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Hurler-Scheie Syndrome
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine,... OMIM:607015
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Dystonia, Spasticity OMIM:312750
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Short neck, Heparan sulfate excretion in urine, Ky... OMIM:309900
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Mend Syndrome
Sacral dimple, Kyphosis, Wide anterior fontanel, Elevated 8(9)-cholestenol, Elevated 8-dehydrocho... ORPHA:401973
Mgat2-Cdg
Ventricular septal defect, Abnormality of the endocrine system, Kyphosis, Hypotonia, Abnormal hea... ORPHA:79329
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Multicystic kidney dysplasia, Camptodactyly of finger, Facial palsy, Kypho... ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Kyphosis, Hypotonia, Male urethral meatus stenosis, Scoli... ORPHA:464738
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Hydroxyprolinemia, Hypercalciuria, Hypotonia, ... OMIM:239000
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased res... OMIM:176270
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Scoliosis, Failure to thrive ORPHA:2115
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral ... ORPHA:464311
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Abdominal situs inversus, Pulmonic stenosis, Campt... OMIM:619123
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Hypertonia, ... ORPHA:192
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Bladder diverticulum, Generalized hypotonia, Scoliosis OMIM:617821
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Delayed puberty OMIM:180870
Jaberi-Elahi Syndrome
Appendicular spasticity, Kyphosis, Hypotonia, Scoliosis, Dystonia, Failure to thrive OMIM:617988
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Trisomy 20P
Hypospadias, Camptodactyly of finger, Short neck, Kyphosis, Abnormality of the ureter, Hypotonia,... ORPHA:261318
Cohen Syndrome
Ventricular septal defect, Failure to thrive in infancy, Kyphosis, Hypotonia, Obesity, Mitral val... ORPHA:193
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Kyphosis, Complete atrioventricular canal defect, Scoliosis,... ORPHA:476126
Micro Syndrome
Hypoplasia of penis, Kyphosis, Hypotonia, Scoliosis, Delayed puberty, Spasticity, Hydronephrosis ORPHA:2510
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Hypogonadi... ORPHA:85293
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Noonan Syndrome 14
Scapular winging, Short neck, Kyphosis, Hypotonia, Mitral valve prolapse, Pulmonic stenosis, Hype... OMIM:619745
Mucolipidosis Type Ii
Hip contracture, Axial hypotonia, Abnormal mitral valve morphology, Diastasis recti, Kyphosis, Sp... ORPHA:576
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Hypotonia, Scoliosis ORPHA:261144
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Ruvalcaba Syndrome
Kyphosis, Hematuria, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology ORPHA:3121
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Hyperton... ORPHA:800
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis, Abnorma... ORPHA:1969
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
3M Syndrome
Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, S... ORPHA:2616
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypo... ORPHA:2215
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilatera... ORPHA:464306
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Wide anterior fontanel, Scoliosis OMIM:259420
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis OMIM:211530
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Congenital diaphragmatic hernia, Kyp... ORPHA:280
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphos... ORPHA:2911
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg... ORPHA:1328
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Generalized hypotonia, Scoliosis, Flexion contracture of finger, Camptodactyly ORPHA:88628
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Generalized hypotonia, Scoliosis OMIM:618493
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Wide anterior fontanel, Platyspondyly, Neon... OMIM:616482
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Short neck, Kyphosis, Hypotonia, Vertebral se... ORPHA:251014
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rigidity, Kyphosis, Hypotonia, Congenital hypothyroidism, Contractures of the large joints, Hyper... OMIM:617527
Alexander Disease
Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Hypoton... ORPHA:58
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Hypotonia, Scoliosis, Failure to thrive ORPHA:420794
Mend Syndrome
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Aortic valve stenosis, Crossed f... OMIM:300960
Zttk Syndrome
Absent gallbladder, Neonatal hypotonia, Ventricular septal defect, Polyuria, Unilateral renal age... OMIM:617140
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Failure to thrive, Camptodactyly of finger, Elevated circ... OMIM:309000
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis, Hypercholesterolemia, Hypothyroidism ORPHA:2479
Plaa-Associated Neurodevelopmental Disorder
Rigidity, Kyphosis, Hypotonia, Contractures of the large joints, Progressive spastic quadriplegia... ORPHA:521426
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Hypertriglyceridemia, Diabetes mellitus, Kyphoscoliosis, Peric... ORPHA:536532
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Hypocalcemia, S... OMIM:618476
Marshall-Smith Syndrome
Thoracic scoliosis, Axial hypotonia, Ventricular septal defect, Kyphoscoliosis, Hypoplasia of the... OMIM:602535
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypospadias, Short neck, Hypoplastic 5t... ORPHA:955
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Scoliosi... OMIM:616894
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... ORPHA:1606
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Hydronephr... ORPHA:568
16Q24.3 Microdeletion Syndrome
Kyphosis, Dilated cardiomyopathy, Ventricular septal defect, Scoliosis ORPHA:261250
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconca... OMIM:259770
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Kyphosis, Scoliosis, Decreased body weight, Neonatal hypotonia, Micropenis OMIM:619005
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral renal a... ORPHA:268261
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Hypospadias, Thoracolumbar scoliosis, Congenital diaphragmatic herni... OMIM:265000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Th... ORPHA:2232
Postencephalitic Parkinsonism
Camptocormia, Oculogyric crisis, Rigidity, Kyphosis, Cogwheel rigidity ORPHA:97349
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Spondyloenchondrodysplasia
Proteinuria, Decreased response to growth hormone stimulation test, Kyphosis, Chronic kidney dise... ORPHA:1855
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:1507
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Hypertonia, Micrope... OMIM:619475
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies ORPHA:2050
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hypotonia OMIM:616294
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Weaver Syndrome
Diastasis recti, Kyphosis, Hypotonia, Hypertonia, Scoliosis, Camptodactyly, Generalized hypotonia... OMIM:277590
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Cardiac fibroma, Hypotonia, Ab... ORPHA:77301
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Kyphosis... ORPHA:171629
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging, Hypotonia, Mitral valve prolapse OMIM:616914
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hypertonia, Hepatomegaly, ... ORPHA:191
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spasticity OMIM:613454
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter OMIM:615108
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Dystonia, Short neck, Kyphosis, Prominent protruding coccyx, Spastic diplegia, Pro... OMIM:300966
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, ... ORPHA:90324
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Elbow flexion cont... OMIM:619194
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Generalized hypoto... OMIM:618050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo... ORPHA:457359
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter OMIM:615109
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepati... ORPHA:99226
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Ventricular septal defe... OMIM:194190
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis OMIM:619557
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Hypotonia OMIM:619244
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hypo... ORPHA:79318
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Hypotonia, Spasticity, Macroglossia, Platyspondyl... OMIM:208400
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight OMIM:182210
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis ORPHA:140
Osteogenesis Imperfecta, Type Iv
Kyphosis, Otosclerosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Kyphoscoliosis, Ectopic kidney, Kyphosis, Camptodactyly, Test... ORPHA:3063
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Thyroid adenoma, Scoliosis, Hypothyroidism, Goiter OMIM:158350
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Wrinkly Skin Syndrome
Scapular winging, Failure to thrive, Hypoplasia of the musculature, Kyphosis, Wide anterior fonta... OMIM:278250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Scoliosis, Delayed puberty, Micropenis OMIM:619718
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:610915
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Kyphosis, Hypotonia, Mitral valve ... ORPHA:558
Sarcoidosis
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Facial palsy, Hypercalcem... ORPHA:797
Stickler Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebra... ORPHA:828
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis OMIM:617011
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Facial palsy, Kyphosis, Epispadias, Hypotonia, Hypogonadi... ORPHA:2658
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphos... ORPHA:201
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Hepatomegaly, Proteinuria, Kyphosis, Splenomegaly, Thymic h... OMIM:216400
Osteogenesis Imperfecta
Abnormal endocardium morphology, Small for gestational age, Cervical kyphosis, Kyphosis, Flexion ... ORPHA:666
Coffin-Siris Syndrome 1
Sacral dimple, Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hern... OMIM:135900
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Decreased response to growth hormone stimulation test, ... ORPHA:64
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Abnormal ... ORPHA:821
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Kyphosis, Splenomegaly... OMIM:133540
Cdags Syndrome
Rectourethral fistula, Kyphosis, Hypospadias OMIM:603116
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Wide anterior fontanel, Hypospadias ORPHA:85199
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Hypotonia, Bladder diverticulum, Platyspondyly, Scoli... ORPHA:198
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Dystonia, Knee flexion contracture OMIM:619708
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Precocious puberty, Kyphosis, Renovascular hypertension, Abnormal heart morphol... ORPHA:97685
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Hypotonia, Urinary incontinence, Scoliosis OMIM:619482
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypothyroi... OMIM:619472
Classic Homocystinuria
Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vert... ORPHA:2273
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Elev... OMIM:259050
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Kyphosis, Splenomega... ORPHA:744
Coffin-Lowry Syndrome
Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight OMIM:303600
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Yunis-Varon Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Hypospadias, Small for gesta... OMIM:216340
Neurofibromatosis Type 1
Abnormality of the endocrine system, Kyphosis, Precocious puberty, Pheochromocytoma, Scoliosis, D... ORPHA:636
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Renal ... OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

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 Pmm2

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 Pmm2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Pmm2tm1b(EUCOMM)Hmgu PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Pmm2tm1b(EUCOMM)Hmgu PMC8163790

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pmm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pmm2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Pmm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pmm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pmm2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pmm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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