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Gene: Pmm2 MGI:1859214

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Gene Summary

Name:
phosphomannomutase 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pmm2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to organogenesis Pmm2tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
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 3.77×10-05
enlarged lymph nodes Pmm2tm1b(EUCOMM)Hmgu HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

28 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Combined SHIRPA and Dysmorphology

Images

1 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
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothyroidism, Proximal t... OMIM:212065
Pmm2-Cdg
Kyphoscoliosis, Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding... 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, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Scoliosis, Kyphosis, Spastic paraplegia, Upper limb spasticity, Joint cont... OMIM:611225
Bethlem Myopathy 2
Scoliosis, Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Increa... OMIM:616471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Rimmed vacuoles, Elevated circulating creatine kinase ... OMIM:300718
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Fatty replacement of ventricular myocardial tissue, Scoliosis, W... OMIM:620386
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Spinal mu... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Severe muscular hypotonia, Spinal rigidity, Scoliosis, Kyphosis, Generalized amyotrophy, Flexion ... OMIM:618323
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Kyphosis, Failure to thrive, Neonatal death, Dystonia, Flexion contr... OMIM:618237
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis, Kyphosis, Increase... OMIM:618484
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Elevated circulating creatine k... OMIM:617404
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy, Kyphosis,... OMIM:618234
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Distal lower limb muscle weakness, Lower limb spasticity, Lower limb amyotrophy, Scoliosis, Hyper... OMIM:615290
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Facial myokymia, Kyphosis, Axial hypotonia, Failure to thrive, Appendicular hypotonia OMIM:620007
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,... ORPHA:75840
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Kyphosis ORPHA:85288
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Scoliosis, Kyphosis, Obesity, Dystonia, Generalized hypotonia, Hypotonia, ... OMIM:616756
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal mi... ORPHA:1354
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Neonatal hypoton... ORPHA:536516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M... ORPHA:98855
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Scoliosis, Kyphosis, Obesity, Scheuermann-like v... OMIM:301900
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Neonatal hypotonia, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Facial... OMIM:606612
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M... ORPHA:98853
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Alg1-Cdg
Decreased liver function, Scoliosis, Cardiomyopathy, Kyphosis, Nephrotic syndrome, Abnormal heart... ORPHA:79327
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased variability in muscle fiber d... OMIM:617228
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Joint contracture of the 5th finger, Scoliosis, Spasticity, Kyphosis, Congenital cont... ORPHA:352490
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Ragged-red muscle fibers, Nephrolithiasis, Kyphosis, Elevated circulating creati... ORPHA:352447
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Neonatal hypotonia, Reduced muscle collagen VI, Torticollis,... OMIM:254090
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Generalized limb muscle atrophy, Scoliosis, Kyphosis, Hypotonia, Myopathy ORPHA:2598
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Left atrial enlargement, Elevated circulating hepatic transaminase concentration,... OMIM:300280
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Kyphosis ORPHA:796
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Facial diplegia, Kyphosis, Neonatal death, Dystonia, Skeletal muscle atrophy, Generali... OMIM:611890
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Calf muscle hypertr... OMIM:607155
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Hypotonia, Scoliosis, Obesity, Kyphosis ORPHA:276630
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, EMG: myopathic ab... OMIM:619040
Marinesco-Sjogren Syndrome
Scoliosis, Rimmed vacuoles, Spasticity, Elevated circulating creatine kinase concentration, Kypho... OMIM:248800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Wide anterior fontanel, Hy... OMIM:619064
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase con... OMIM:615084
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Scoliosis, Membranous subvalvular aortic stenosis, Kyph... ORPHA:3191
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Limb dystonia, Kyphosis, Upper limb hypertonia ORPHA:319199
Fucosidosis
Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hepatomegaly, Spasticity, K... ORPHA:349
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Kyphosis, Neonatal death, Skeletal muscle atrophy, Short neck, Arthrogryposis mult... OMIM:618393
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Kyphosis, Hypocholesterolemia, Pericardial effusion, F... OMIM:608776
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Polycystic kidney d... OMIM:614859
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Myopathy, Centronuclear, 2
Neonatal hypotonia, Scoliosis, Hyperlordosis, Scapular winging, EMG: myopathic abnormalities, Kyp... OMIM:255200
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypotonia, Scoliosis, Hypospadias, Kyphosis ORPHA:1548
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Dystonia, Skeletal muscl... OMIM:230650
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypogonadism, Hypotonia, Kyphosis ORPHA:1875
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Scoliosis, Kyphosis, Distal upper limb amyotrophy ORPHA:101075
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis OMIM:618392
Typical Nemaline Myopathy
Neonatal hypotonia, Spinal rigidity, Scoliosis, Hyperlordosis, Facial diplegia, Facial palsy, Kyp... ORPHA:171436
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Lower limb spasticity, Scoliosis, Spasticity, Kyphosis, Axial hypotonia, Ob... ORPHA:464282
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Sialidosis Type 2
Hepatomegaly, Kyphosis, Flexion contracture, Splenomegaly, Skeletal muscle atrophy, Generalized h... ORPHA:87876
Baralle-Macken Syndrome
Neonatal hypotonia, Urinary incontinence, Spasticity, Kyphosis, Obesity, Dystonia OMIM:619255
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis, Obesity, Hypotonia, Foot dorsiflexor weakness OMIM:618124
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Multicystic kidney dyspl... ORPHA:3032
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Generalized hypotonia, Kyphosis OMIM:618512
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Urinary incontinence, Lower limb spasticity, Scoliosis, Kyphosis, Limb muscle weakn... OMIM:614409
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hyperlordosis,... ORPHA:26791
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Masa Syndrome
Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Kyphosis OMIM:303350
Congenital Myopathy 22A, Classic
Neonatal hypotonia, Spinal rigidity, Weakness of facial musculature, Ragged-red muscle fibers, Sc... OMIM:620351
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Slender build, Generalized hypotonia OMIM:300831
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Wide anterior fontanel, Hemivertebrae, Camptod... OMIM:113000
Fliedner-Zweier Syndrome
Hypertonia, Unilateral renal agenesis, Scoliosis, Kyphosis, Obesity, Hydronephrosis, Hypotonia, B... OMIM:620511
Kleefstra Syndrome 2
Scoliosis, Generalized hypotonia, Hypotonia, Kyphosis OMIM:617768
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Truncal obesity, Spasticity, Kyphosis ORPHA:2429
Zimmermann-Laband Syndrome 3
Generalized hypotonia, Flexion contracture, Kyphosis OMIM:618658
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Neonatal hypotonia, Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone leve... ORPHA:95715
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Scoliosis, Hyp... OMIM:128100
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertonia, Scoliosis, Kyphosis, Generalized hypotonia, Arthrogryposis multiplex congenita, Small... OMIM:615834
Cdkl5-Deficiency Disorder
Scoliosis, Abnormal muscle tone, Kyphosis ORPHA:505652
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Hypospadi... ORPHA:94065
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex... ORPHA:178148
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Elevated circulating hepatic transaminase concentration, Wide anterior ... OMIM:614883
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
19P13.12 Microdeletion Syndrome
Hypospadias, Scoliosis, Hyperlipidemia, Kyphosis, Arthrogryposis multiplex congenita, Hypothyroid... ORPHA:254346
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Kyphosis, Generalized hypotonia, Abdominal obesity, Hypotonia, Dist... OMIM:300354
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Sacral dimple, Wide anterior fontanel, Kyphosis OMIM:618272
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, General... OMIM:130060
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Wide anterior fontanel, Scoliosis, Kyphosis, Camptodactyly, Congenital... OMIM:248700
Schaaf-Yang Syndrome
Neonatal hypotonia, Scoliosis, Camptodactyly, Kyphosis, Obesity, Flexion contracture, Hypogonadis... OMIM:615547
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe... ORPHA:7
Winchester Syndrome
Kyphosis OMIM:277950
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Dystonia, Upper limb hypertonia OMIM:614898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Emanuel Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Unilateral renal agenesis, Torticollis, Scoliosis... OMIM:609029
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Wide anterior fontanel, Patent foramen ovale, ... OMIM:606003
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture, Platyspondyly OMIM:313420
Alpha-Mannosidosis
Hepatomegaly, Scoliosis, Kyphosis, Splenomegaly, Hypotonia, Type II diabetes mellitus, Short neck... ORPHA:61
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hypertonia, Hepatomegaly, Abnormal heart valve morphology, Scoliosis... OMIM:230500
Zimmermann-Laband Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Short neck, Macroglossia OMIM:616455
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, ... ORPHA:48431
Mucolipidosis Iii Gamma
Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Increased serum beta-hexosam... OMIM:252605
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Cardiomyopathy, Kypho... ORPHA:354
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Limb hypertonia, Kyphosis, Axial hypotonia, Secundum atrial septal defect, S... OMIM:619909
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Wide anterior fontanel, Kyphosis, Pulmonic stenosis, Short... ORPHA:3098
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Hydronephrosis, Hypotonia, Kyphosis OMIM:619797
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Hepatomegaly, Keratan sulfate excretion in... OMIM:253000
Lopes-Maciel-Rodan Syndrome
Hypertonia, Scoliosis, Spasticity, Kyphosis, Axial hypotonia, Dystonia OMIM:617435
Sjögren-Larsson Syndrome
Scoliosis, Spasticity, Kyphosis, Hypotonia, Spastic diplegia ORPHA:816
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2471
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Wide anterior fontanel, ... OMIM:614886
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Elevated circulating creatine kinase concentration, Kyphosis, Increased variability in muscle fib... OMIM:151800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Hypotonia, Kyphosis, Slender build OMIM:300676
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Obesity, Type II diabe... ORPHA:3085
Wieacker-Wolff Syndrome
Congenital foot contractures, Scoliosis, Hyperlordosis, Distal amyotrophy, Facial palsy, Kyphosis... OMIM:314580
Flynn-Aird Syndrome
Cachexia, Scoliosis, Kyphosis, Primary adrenal insufficiency, Skeletal muscle atrophy, Type II di... ORPHA:2047
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male... OMIM:615381
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Neonatal hypotonia, Hyperechogenic pancrea... ORPHA:456312
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Distal 16P11.2 Microdeletion Syndrome
Neonatal hypotonia, Hyperuricemia, Vesicoureteral reflux, Kyphosis, Obesity, Proteinuria, Chronic... ORPHA:261222
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothyroidism, Proximal t... OMIM:212065
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Platyspondyly OMIM:234250
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Lacticaciduria, Patent foramen ovale, Neonatal death, Dystonia, Hypotonia, Left ven... OMIM:619167
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Axial hypotonia, Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis,... OMIM:603387
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Distal amyotrophy, Kyphosis, Congenital foot contractures ORPHA:3454
Diaphanospondylodysostosis
Enlarged kidney, Lumbosacral meningocele, Abnormal liver lobulation, Absent in utero ossification... OMIM:608022
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Kyphosis, Abnormality of the ureter, Camptodacty... ORPHA:3409
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis OMIM:615761
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Trisomy 13
Scoliosis, Kyphosis, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meat... ORPHA:3378
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Scoliosis, Spasticity, Kyphosis, Axial hypotonia, Slender build, Hydronephrosis... ORPHA:364028
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Spina bifida occulta, Abnormal form of the vertebra... ORPHA:2311
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Scoliosis, Kypho... ORPHA:812
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Spasticity, Kyphosis, Infantile muscular hypotonia, Dystonia ORPHA:500180
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Kyphosis, Mucopolysacchariduria, Failure to thrive, Ovoid verteb... ORPHA:583
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso... OMIM:156530
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Scoliosis, Kyphosis... ORPHA:2075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Ske... OMIM:618291
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness, Ventricular septal... OMIM:169400
Distal Triplication 15Q
Large for gestational age, Polycystic kidney dysplasia, Scoliosis, Kyphosis, Camptodactyly, Hydro... ORPHA:314588
Thanatophoric Dysplasia
Kyphosis, Hypotonia, Abnormal sacroiliac joint morphology, Platyspondyly, Atrial septal defect ORPHA:2655
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Scoliosis, Spasticity, Facial palsy, Kyphosis, Hip contracture, Achilles te... OMIM:301041
Arthrogryposis, Distal, Type 5
Hypertonia, Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, Decreased ... OMIM:108145
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I... OMIM:613179
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Scoliosis, Kyphosis ORPHA:99014
Atypical Rett Syndrome
Neonatal hypotonia, Scoliosis, Spasticity, Kyphosis, Dystonia, Hypotonia, Abnormal muscle tone ORPHA:3095
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Scoliosis, Elevated urinary epinephrine level, Hyperlordosis, Kyphosis, Elevate... OMIM:162300
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... ORPHA:2635
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Hypotonia, Kyphosis OMIM:615433
Shashi-Pena Syndrome
Unilateral renal agenesis, Limb hypertonia, Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis,... OMIM:617190
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Spasticity, Kyphosis OMIM:610743
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Hepatomegaly, Abnormal heart valve morpholog... OMIM:253220
Achondroplasia
Cervical spinal canal stenosis, Wide anterior fontanel, Kyphosis, Infantile muscular hypotonia, S... ORPHA:15
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:203800
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Hypokalemia, Nephrolithiasis, Kyphosis, Biconcave vertebral bodie... OMIM:219090
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre... OMIM:610199
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Thanatophoric Dysplasia Type 2
Platyspondyly, Atrial septal defect, Hypotonia, Kyphosis ORPHA:93274
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger, Mitral valve prolapse ORPHA:137834
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Vertebral segmentation defect, Hypertonia, Kyphosis ORPHA:2617
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Scoliosis, Vesicoureteral reflux, Kyphosis, Camptodactyly of finger, S... OMIM:619951
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Vesicoureteral reflux, Kyphosis, Pulmonic stenosis, ... OMIM:610443
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Spasticity, Kyphosis, Dystonia, Hypotonia, Failure to thrive in infancy ORPHA:702
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Abnormal cardiac septum morphology, Scoliosis, Vesicoureteral ... ORPHA:96169
Autosomal Recessive Ataxia, Beauce Type
Neonatal hypotonia, Urinary incontinence, Lower limb spasticity, Scoliosis, Spasticity, Kyphosis,... ORPHA:88644
Crisponi Syndrome
Hypertonia, Scoliosis, Kyphosis, Camptodactyly of finger, Flexion contracture ORPHA:1545
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Opisthotonus, Mitral valve prolapse, Infantile axial hypotonia, Cervical spinal canal s... ORPHA:508533
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Mosaic Trisomy 9
Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal heart valve morphology, Sc... ORPHA:99776
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:324737
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Scoliosis, Spasticity, Kyphosis, Hydronephrosis, Hypotonia, Atrial septal defect, Ve... OMIM:616449
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Infantile muscular ... ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Neonatal hypotonia, Delayed puberty, Scoliosis, Patent foramen ovale, Ventricular... OMIM:300967
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Kyphosis, Hypotonia, Abnormal sacroiliac joint morphology, Platyspondyly,... ORPHA:1860
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Ventricular hypertrophy, Kyphos... OMIM:300942
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger, Hypotonia, H... ORPHA:628
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spasticity, Kyphosis, Prolonged neonatal jaundice, Failure to thrive, D... OMIM:615512
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Short ... ORPHA:2522
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Muscular dystrophy, Abnormal anatomic location of the heart, ... ORPHA:2461
Magel2-Related Prader-Willi-Like Syndrome
Neonatal hypotonia, Premature pubarche, Small pituitary gland, Scoliosis, Increased body weight, ... ORPHA:398069
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyp... OMIM:219080
Holt-Oram Syndrome
Atrioventricular canal defect, Scoliosis, Ventricular septal defect, Kyphosis, Atrial septal defe... ORPHA:392
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Keratan sulfate excretion in urine, Scoliosis, Hyperlordosis, Kyphosis, Aortic valv... OMIM:253010
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Spondylolisthesis, Scoliosis, Increased serum beta-hexosaminidase, Cardiomyopathy, ... OMIM:252600
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Hip... OMIM:259450
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Primary hyperparathyroidism, Elevated cir... ORPHA:1332
Cockayne Syndrome Type 2
Hepatomegaly, Limb hypertonia, Lower limb spasticity, Scoliosis, Kyphosis, Axial hypotonia, Flexi... ORPHA:90322
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis, Abnormal heart morphology, Hypotonia, Ventricular septal defect ORPHA:404440
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Perimembranous ventricular septal defect, Hypospadias, Scoliosis, Hemivertebrae, ... OMIM:301040
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Scoliosis, Ventricular septal defect, Kyphosis ORPHA:261190
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Scoliosis, Kyphosis, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Facial palsy, Kyphosis, Skeletal muscle atrophy, Hypotonia, Arthrogryposis multiplex c... OMIM:617143
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Kyphosis, Mucopolysacchariduria, Spina... ORPHA:582
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Scapular winging, Kyphosis, Hypotonia, Atrial septal defect, Ventricular septal defect OMIM:617061
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Neonatal hypotonia, Scoliosis, Kyphosis, Failure to thrive, Flexion contracture, Hypotonia, Hypog... ORPHA:500055
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Hypoplasia of penis, Kyphosis, Hypogonadism, Short neck ORPHA:2983
Lateral Meningocele Syndrome
Neurogenic bladder, Scoliosis, Kyphosis, Biconcave vertebral bodies, Decreased muscle mass, Hypot... OMIM:130720
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Hypospadias, Wide anterior fontanel, Hyperbilirubinemia,... OMIM:613673
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral ... OMIM:301111
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Hypotonia, Kyphosis ORPHA:238750
Prader-Willi Syndrome
Hypertriglyceridemia, Neonatal hypotonia, Decreased HDL cholesterol concentration, Hyperinsulinem... OMIM:176270
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Kyphosis, Dermatan sulfate excretion in urine, Hep... OMIM:309900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Scoliosis, Hyperlordosis, Spasticity, Kyphosis, Thoracolumbar scoliosis, Obesity, H... OMIM:618443
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Hypospadias, Scoliosis, Camptodactyly, Kyphosis, Failure to thri... OMIM:617602
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Hypotonia, Short neck,... ORPHA:2789
Hurler Syndrome
Hepatomegaly, Cardiomyopathy, Kyphosis, Dermatan sulfate excretion in urine, Biconcave vertebral ... OMIM:607014
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Kyphosis, Obesity, Generalized hypotonia, Hypotonia, Platyspondyly, Sho... OMIM:251450
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Distal amyotrophy, Kyphosis, Spastic paraplegia, Flexion contracture OMIM:609541
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Arthrogryposis, Distal, Type 4
Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Lumbar scolios... OMIM:609128
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Dermatan sulfate excretion in urine, Camptodactyly of finger, ... OMIM:607015
Rett Syndrome
Cachexia, Scoliosis, Spasticity, Kyphosis, Dystonia, Skeletal muscle atrophy OMIM:312750
Becker Nevus Syndrome
Scoliosis, Kyphosis, Shoulder girdle muscle atrophy, Spina bifida occulta ORPHA:64755
Clark-Baraitser syndrome
Scoliosis, Obesity, Kyphosis OMIM:300602
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid... OMIM:183900
Mgat2-Cdg
Abnormality of the endocrine system, Scoliosis, Kyphosis, Failure to thrive, Abnormal heart morph... ORPHA:79329
Mend Syndrome
Sacral dimple, Limb hypertonia, Wide anterior fontanel, Kyphosis, Aortic valve stenosis, Failure ... ORPHA:401973
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Scoliosis, Facial palsy, Kyphosis, Camptodactyly of finger, Failure to thr... ORPHA:261349
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Hypospadias, Cholelithiasis, Scoliosis, Spasticity, Kyphosis, Hydronephrosi... ORPHA:464738
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Mitral v... OMIM:108300
Harrod Syndrome
Hypospadias, Scoliosis, Kyphosis, Failure to thrive, Multicystic kidney dysplasia ORPHA:2115
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Kyphosis, Pulmonic stenosis, Asplenia, Ventricular ... OMIM:619123
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Kyphos... OMIM:239000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Scoliosis, Vent... ORPHA:464311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Scoliosis, Elbow flexion contracture, Kyphosis, Abnormal curvature... ORPHA:93360
Alkaptonuria
Decreased glomerular filtration rate, Intervertebral disk degeneration, Nephrolithiasis, Kyphosis... OMIM:203500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis, Bladder diverticulum, Generalized hypotonia OMIM:617821
Coffin-Lowry Syndrome
Hypertonia, Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormal form ... ORPHA:192
Trisomy 20P
Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyp... ORPHA:261318
Ruvalcaba Syndrome
Delayed puberty, Scoliosis, Kyphosis OMIM:180870
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... OMIM:313400
Jaberi-Elahi Syndrome
Appendicular spasticity, Scoliosis, Kyphosis, Failure to thrive, Dystonia, Hypotonia OMIM:617988
Cohen Syndrome
Delayed puberty, Scoliosis, Kyphosis, Obesity, Mitral valve prolapse, Hypotonia, Failure to thriv... ORPHA:193
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Hypoproteinemia... OMIM:619991
Bruck Syndrome
Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis ORPHA:2771
Micro Syndrome
Delayed puberty, Hypoplasia of penis, Scoliosis, Spasticity, Kyphosis, Hydronephrosis, Hypotonia ORPHA:2510
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Scoliosis, Macroglossia, Kyphosis ORPHA:79107
Mucolipidosis Type Ii
Abnormal aortic valve morphology, Knee flexion contracture, Patent foramen ovale, Cardiomyopathy,... ORPHA:576
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Scoliosis, Kyphosis, Failure to thrive, Hypercalcemia, Complete atrioventri... ORPHA:476126
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Scoliosis, Kyphosis, Joint contracture of the 5th finger ORPHA:1883
Frank-Ter Haar Syndrome
Kyphoscoliosis, Wide anterior fontanel, Patent foramen ovale, Kyphosis, Camptodactyly, Secundum a... OMIM:249420
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Scoliosis, Kyphosis, Camptodactyly of finger, Obesity, Hypogonadis... ORPHA:85293
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Macroglossia, Hypotonia, Kyphosis ORPHA:261144
Noonan Syndrome 14
Scapular winging, Kyphosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse... OMIM:619745
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Scoliosis, Hemivertebrae,... ORPHA:2916
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Ruvalcaba Syndrome
Delayed puberty, Hematuria, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
3M Syndrome
Increased vertebral height, Hypospadias, Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Sh... ORPHA:2616
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr... ORPHA:800
Weismann-Netter Syndrome
Scoliosis, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Multiple joint contractures, Pelvic kidney, Scoliosis, An... ORPHA:464306
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Wide anterior fontanel, Scoliosis, Kyphosis OMIM:259420
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal circulating creatine kinase concentration, Congenital muscular torticollis, Scoliosis, K... ORPHA:2215
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis, Hypoplasia of penis ORPHA:3082
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Kyphosis, Abnormal mitral valve morphology, Skeletal muscle atrophy, Abnorma... ORPHA:1969
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363958
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Sacral dimple, Hypospadias, Abnor... ORPHA:280
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Failure to thrive, Hypotonia, Short neck ORPHA:420794
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Facial palsy, Kyphosis, Hand muscle atrophy, Skeletal muscle atrophy, Hypotonia OMIM:211530
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Wide anterior fontanel, Kyphosis, Neonatal death, Platyspondyly, Lumbar hyp... OMIM:616482
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Elbow flexion contracture, Kyphosis, Obesity, Hip contracture, Generalized hypotonia OMIM:618493
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypomimic face, Hypertonia, Kyphosis, Congenital hypothyroidism, Failure to thrive, Rigidity, Hyp... OMIM:617527
2Q31.1 Microdeletion Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Abnormality of the hypothalamus-pituitary axi... ORPHA:251014
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Hypospadias, Spina bifid... ORPHA:2911
Camurati-Engelmann Disease
Delayed puberty, Hepatomegaly, Abnormality of the vertebral column, Cachexia, Scoliosis, Hyperlor... ORPHA:1328
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Camptodactyly, Kyphosis, Flexion contracture of finger, Generalized hypotonia ORPHA:88628
Alexander Disease
Scoliosis, Hyperlordosis, Facial palsy, Spasticity, Kyphosis, Hypothyroidism, Failure to thrive, ... ORPHA:58
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Mend Syndrome
Hypertonia, Sacral dimple, Kyphosis, Aortic valve stenosis, Failure to thrive, Axial hypotonia, C... OMIM:300960
Zttk Syndrome
Polyuria, Neonatal hypotonia, Unilateral renal agenesis, Scoliosis, Hemivertebrae, Spasticity, Ky... OMIM:617140
Pycnodysostosis
Decreased response to growth hormone stimulation test, Spondylolysis, Spondylolisthesis, Scoliosi... ORPHA:763
Plaa-Associated Neurodevelopmental Disorder
Limb hypertonia, Kyphosis, Failure to thrive, Rigidity, Dystonia, Hypotonia, Contractures of the ... ORPHA:521426
Marshall-Smith Syndrome
Kyphoscoliosis, Hypertonia, Atlantoaxial dislocation, Scoliosis, Thoracic kyphosis, Decreased bod... OMIM:602535
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Hypothyroidism, Hypotonia, Hypercholesterolemia ORPHA:2479
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Hypertriglyceridemia, Sacral dimple, Kyphosis, Pericardial effusion, Mitral valve... ORPHA:536532
Hajdu-Cheney Syndrome
Delayed puberty, Hepatomegaly, Hypospadias, Scoliosis, Kyphosis, Biconcave vertebral bodies, Aort... ORPHA:955
Fountain Syndrome
Scoliosis, Kyphosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:3219
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Vesicoureteral reflux, Patent foramen ovale, Kyphosis, Camptodactyly, S... OMIM:616894
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo... OMIM:607326
1P36 Deletion Syndrome
Hypoplasia of penis, Kyphosis, Hypogonadism, Hepatic steatosis, Myopathy, Abnormal cardiac septum... ORPHA:1606
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Hypocalcemia, Spasticity, Kyphosis, Rigidity, Platyspondyly, Spastic te... OMIM:618476
Spondyloepiphyseal Dysplasia Congenita
Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p... ORPHA:94068
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Camptodactyly of finger, Hydronephr... ORPHA:568
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Hepatomegaly, Scoliosis, Decreased body weight, Kyphosis, Micropenis OMIM:619005
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Neonatal hypotonia, Hypercholesterolemia, Scoli... OMIM:309000
16Q24.3 Microdeletion Syndrome
Scoliosis, Ventricular septal defect, Dilated cardiomyopathy, Kyphosis ORPHA:261250
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ... OMIM:259770
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Sacral dimple, Decreased response to growth hormone stimulation test, Unilateral rena... ORPHA:268261
Postencephalitic Parkinsonism
Oculogyric crisis, Cogwheel rigidity, Kyphosis, Camptocormia, Rigidity ORPHA:97349
Cole-Carpenter Syndrome
Scoliosis, Hypotonia, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Congenital diaphragmatic hernia, Fused cervical vertebrae,... OMIM:265000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:2232
Trisomy 9P
Short neck, Scoliosis, Sacral dimple, Kyphosis ORPHA:236
Cole-Carpenter Syndrome 2
Platyspondyly, Hypotonia, Kyphosis OMIM:616294
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc... ORPHA:2062
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Hematuria, Spasticity, Kyphosis, Hypothyro... ORPHA:1855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Kyphosis, Bicuspid aort... OMIM:619475
Weaver Syndrome
Hypertonia, Scoliosis, Spasticity, Diastasis recti, Camptodactyly, Kyphosis, Generalized hypotoni... OMIM:277590
Autosomal Recessive Robinow Syndrome
Sacral dimple, Abnormal tricuspid valve morphology, Hypoplasia of penis, Scoliosis, Vertebral seg... ORPHA:1507
Pseudoachondroplasia
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia... OMIM:177170
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Hypertonia, Atrioventricular canal defect, Abnormality of the ga... ORPHA:818
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Abnormal form of the vertebral bod... ORPHA:904
Cockayne Syndrome
Delayed puberty, Urinary incontinence, Elevated circulating hepatic transaminase concentration, C... ORPHA:191
Monosomy 9Q22.3
Large for gestational age, Rhabdomyosarcoma, Abnormality of the vertebral column, Kyphosis, Cardi... ORPHA:77301
Rett Syndrome, Congenital Variant
Neonatal hypotonia, Scoliosis, Spasticity, Kyphosis, Dystonia, Generalized hypotonia OMIM:613454
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Limb hypertonia, Splenic cyst, Patent foramen ovale, Spasticity, Decreased body wei... OMIM:620371
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Sacral dimple, ... OMIM:620185
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Lower limb spasticity, Enuresis nocturna, Pollakisuria, Spastic tetraparesi... ORPHA:171629
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Hyperlordosis, Kyphosis, Camptodactyly, Thoracolumbar scoliosis, Ovoid vertebral b... OMIM:618019
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck ORPHA:958
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Scapular winging, Hypotonia, Kyphosis OMIM:616914
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Kyphosis, Short neck, Macroglossia ORPHA:1798
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Mitral valve prolapse, Kyphosis OMIM:177850
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Cockayne Syndrome Type 3
Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepatic transaminase c... ORPHA:90324
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Camptodactyly, Hypoplasia of... OMIM:223800
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypertonia, Hydroureter, Unilateral renal agenesis, Scoliosis, Elbow flexion contracture, Kyphosi... OMIM:619194
Cowden Syndrome 5
Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:615108
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Intervertebral space narrowing, Scoliosis, Ventricular hypertrophy, Tricuspid ste... OMIM:143095
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Prominent protruding coccyx, Scoliosis, Spasticity, Kyphosis, Dystonia, Generalize... OMIM:300966
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:99226
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Failure... OMIM:618050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Hypotonia, Kyphosis OMIM:619557
Cowden Syndrome 6
Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:615109
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Large for gestational age, Facial hypotonia, Kyphosis, Slender build, Hypotonia, ... ORPHA:457359
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Kyphosi... ORPHA:534
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Abnormal form of the vertebral bodies, Accessory spleen, Scoliosis, K... OMIM:194190
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Hypotonia, Kyphosis OMIM:619244
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Otosclerosis, Scoliosis, Kyphosis OMIM:166220
Pmm2-Cdg
Kyphoscoliosis, Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding... ORPHA:79318
Shprintzen Omphalocele Syndrome
Scoliosis, Decreased body weight, Kyphosis, Generalized hypotonia, Hypotonia, Lumbar hyperlordosis OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter, Scoliosis, Hyperlordosis, Spasticity, Kyphosis, Thoracolumbar scoliosis, Flexion con... OMIM:620450
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Scoliosis, Kyphosis, Hydronephrosis, Short neck ORPHA:140
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Ectopic kidney, Hypospadias, Camptodactyly, Kyphosis, Infantile muscular hypotoni... ORPHA:3063
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Scoliosis, Spasticit... OMIM:208400
Cowden Syndrome 1
Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Thyroid adenoma, Hyperthyroidism, Goiter OMIM:158350
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis ORPHA:1005
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Hypoplasia of the musculature, Wide anterior fontanel, Scolio... OMIM:278250
Cerebrocostomandibular Syndrome
Ventricular septal defect, Multicystic kidney dysplasia, Kyphosis ORPHA:1393
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Hypospadias, Scoliosis, Kyphosis, Micropenis, Hypogonadotropic hypogonadism OMIM:619718
Osteogenesis Imperfecta, Type Viii
Vertebral compression fracture, Wide anterior fontanel, Scoliosis, Kyphosis, Platyspondyly OMIM:610915
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Dysuria, Pituitary gro... ORPHA:963
Spondyloperipheral Dysplasia
Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck OMIM:271700
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Tetralogy of Fallot, Kyphosis OMIM:153400
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Abnormality of the adrenal glands... ORPHA:797
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Scoliosis, Hyperlordosis, Kyphosis, Hypotonia OMIM:617011
Stickler Syndrome
Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis, Spinal c... ORPHA:828
Somatomammotropinoma
Anterior hypopituitarism, Dysuria, Pituitary growth hormone cell adenoma, Hypertrophic cardiomyop... ORPHA:314769
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Kyphosis, Failure to thrive, Hip con... OMIM:216400
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Hypospadias, Scoliosis, Facial palsy, Kyphosis, Hypotonia, Hypogonadism, Abnormal pen... ORPHA:2658
Cowden Syndrome
Neoplasm of the thyroid gland, Scoliosis, Kyphosis, Failure to thrive, Follicular thyroid carcino... ORPHA:201
Osteogenesis Imperfecta
Abnormal endocardium morphology, Vertebral compression fracture, Enlarged vertebral pedicles, Hyp... ORPHA:666
Marfan Syndrome
Tricuspid valve prolapse, Spondylolisthesis, Cachexia, Scoliosis, Kyphosis, Mitral valve calcific... ORPHA:558
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati... ORPHA:64
Cockayne Syndrome B
Hepatomegaly, Severe failure to thrive, Renal insufficiency, Kyphosis, Failure to thrive, Splenom... OMIM:133540
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Sacral dimple, Hydroureter, Ectopic kidney, Hypospadias, Spina b... OMIM:135900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod... ORPHA:3042
Sotos Syndrome
Ureteral duplication, Kyphosis, Prolonged neonatal jaundice, Abnormal heart morphology, Congenita... ORPHA:821
Cdags Syndrome
Rectourethral fistula, Hypospadias, Kyphosis OMIM:603116
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ky... OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Hypospadias, Kyphosis ORPHA:85199
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Kyphosis, Knee flexion contracture OMIM:619708
Occipital Horn Syndrome
Jaundice, Scoliosis, Cholestasis, Kyphosis, Bladder diverticulum, Hypotonia, Platyspondyly, Hepat... ORPHA:198
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Kyphosis OMIM:609944
Familial Osteodysplasia, Anderson Type
Scoliosis, Hyperuricemia, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Viss Syndrome
Butterfly vertebrae, Atrial septal defect, Scoliosis, Patent foramen ovale, Coronary sinus enlarg... OMIM:619472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Urinary incontinence, Hypotonia, Kyphosis OMIM:619482
17Q11 Microdeletion Syndrome
Delayed puberty, Rhabdomyosarcoma, Beaking of vertebral bodies T12-L3, Elevated circulating parat... ORPHA:97685
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Kyphosis ORPHA:394
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Hydroureter, Abnormality of the vertebral column, Kyphosis, Campto... ORPHA:2273
Primrose Syndrome
Delayed puberty, Distal amyotrophy, Kyphosis, Hypergonadotropic hypogonadism, Hypothyroidism, Pos... OMIM:259050
Spondyloarthropathy, Susceptibility To, 1
Back pain, Sacroiliac arthritis, Kyphosis OMIM:106300
Proteus Syndrome
Enlarged kidney, Abnormal form of the vertebral bodies, Long penis, Cachexia, Scoliosis, Diabetes... ORPHA:744
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Decreased body weight, Kyphosis, Hypotonia OMIM:303600
Ramon Syndrome
Scoliosis, Decreased body weight, Kyphosis OMIM:266270
Cleidocranial Dysplasia 1
Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis OMIM:119600
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Patent foramen ovale, Cardiomyopathy, Kyphosis, Tetralogy ... OMIM:216340
Neurofibromatosis Type 1
Delayed puberty, Rhabdomyosarcoma, Abnormality of the endocrine system, Pheochromocytoma, Scolios... ORPHA:636
Branchiooculofacial Syndrome
Hypospadias, Hyperlordosis, Elbow flexion contracture, Facial palsy, Kyphosis, Renal cyst, Ectopi... OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we... 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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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