Gene Summary

Name:
phosphomannomutase 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pmm2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Pmm2tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
embryonic lethality prior to organogenesis Pmm2tm1b(EUCOMM)Hmgu HOM   E9.5 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:
Viewing: all phenotypes
Select physiological systems to view:
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

Embryo LacZ

LacZ images wholemount

28 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

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.

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
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, J... OMIM:611225
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Generalized hypotonia, Hypotonia, Myopathy, Eleva... OMIM:616471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Hypotonia, Myopathy, Severe muscular hypotonia, Flexion contracture, Scol... OMIM:618323
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Failure to thrive, Generalized hypotonia, Hypertrophic cardiomyopathy, Myopa... OMIM:618237
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Small... OMIM:618484
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hypotonia, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Lower limb sp... OMIM:617404
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypertrophic cardiomyopathy, Hypotonia, Myopathy, Hepatomegaly, Macrovesicular... OMIM:618234
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Elevated ci... OMIM:615290
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Appendicular hypotonia, Facial myokymia, Kyphosis, Axial hypotonia OMIM:620007
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized hypotonia, Lumbar hyperlordosis, Obesity, Hypotonia, Lower limb spasticity, Dystonia,... OMIM:616756
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... ORPHA:1354
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Neonatal hypotonia... ORPHA:536516
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Kyphosis ORPHA:85288
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Generalized hypotonia, Obesity, Hypotonia, Scheuermann-like verte... OMIM:301900
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Neonat... OMIM:606612
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Foot dorsiflexor weakness, Scoliosis, Lower limb amyotrophy, Upper limb amyotrophy OMIM:617087
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Decreased liver function, Abnormal heart morphology, Hypotonia, ... ORPHA:79327
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Ventricular septal defect, Atrial septal defect, Hepatic melan... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Small for gestational age, Congenital contracture, Arthrogryposis ... ORPHA:352490
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle... ORPHA:352447
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... OMIM:254090
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Hypotonia, Myopathy, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Generalized hypotonia, Facial dipleg... OMIM:611890
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exerci... OMIM:607155
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Hypotonia, Obesity, Scoliosis, Kyphosis ORPHA:276630
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hypotonia,... OMIM:619064
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle... OMIM:615084
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
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Biliary tract abnor... ORPHA:3191
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Limb dystonia, Kyphosis, Upper limb hypertonia ORPHA:319199
Fucosidosis
Spasticity, Spastic tetraplegia, Failure to thrive, Decreased muscle mass, Hypotonia, Abnormality... ORPHA:349
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, Neonatal death, Short neck, Camptodactyly, Arthrogryposis multiplex cong... OMIM:618393
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hypotonia, Splenomegaly, Hepatomegaly, S... OMIM:608776
Peroxisome Biogenesis Disorder 3A (Zellweger)
Generalized neonatal hypotonia, Generalized hypotonia, Hypotonia, Hepatomegaly, Increased circula... OMIM:614859
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Neonatal hypotonia, EMG: myopathic abnormalities, Hyp... OMIM:255200
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypotonia, Scoliosis, Hypospadias, Kyphosis ORPHA:1548
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Anterior beaking of lumbar ve... OMIM:230650
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Hypotonia, Muscular dystrophy, Kyphosis ORPHA:1875
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Sialidosis Type 2
Nephropathy, Skeletal muscle atrophy, Generalized hypotonia, Splenomegaly, Hepatomegaly, Flexion ... ORPHA:87876
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Puberty and gonadal disorders, Obesity, Lower limb sp... ORPHA:464282
Baralle-Macken Syndrome
Spasticity, Neonatal hypotonia, Obesity, Urinary incontinence, Dystonia, Kyphosis OMIM:619255
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Hypotonia, Obesity, Foot dorsiflexor weakness, Scoliosis, Kyphosis OMIM:618124
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ... ORPHA:3032
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Rhabdomyolysis, Hepatomegaly, Polycystic kidney dy... ORPHA:26791
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Generalized hypotonia OMIM:618512
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Spastic gait, Lower limb muscle weakness, Limb muscle weakness, Lower limb sp... OMIM:614409
Masa Syndrome
Spastic paraplegia, Lower limb spasticity, Kyphosis, Hyperlordosis OMIM:303350
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Ck Syndrome
Generalized hypotonia, Slender build, Hyperlordosis, Scoliosis, Kyphosis OMIM:300831
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Ventricular septal defect, Camptodactyly, Thor... OMIM:113000
Kleefstra Syndrome 2
Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia OMIM:617768
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hypotonia, Ventricular septal d... OMIM:620511
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Kyphosis, Truncal obesity ORPHA:2429
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis, Generalized hypotonia OMIM:618658
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Generalized hypotonia, Hypotonia, Multiple joint contracture... OMIM:128100
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Generalized hypotonia, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita, Small... OMIM:615834
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Abnormal muscle tone ORPHA:505652
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Neonatal hypotonia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Re... ORPHA:95715
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
15Q24 Microdeletion Syndrome
Hypospadias, Small for gestational age, Failure to thrive, Microphallus, Abnormal heart morpholog... ORPHA:94065
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:614883
19P13.12 Microdeletion Syndrome
Precocious puberty, Arthrogryposis multiplex congenita, Obesity, Hypotonia, Hyperlipidemia, Hepat... ORPHA:254346
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Skeletal muscle atrophy ORPHA:101078
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Wide anterior fontanel, Enlarged kidney OMIM:618272
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Generalized hypotonia, Hypogonadism, Hypotonia, Distal lower limb amyotrophy, Delayed puberty, Ab... OMIM:300354
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Generalized hypotonia, Hypot... OMIM:130060
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Decreased m... OMIM:248700
Schaaf-Yang Syndrome
Neonatal hypotonia, Failure to thrive in infancy, Hypogonadism, Obesity, Camptodactyly, Micropeni... OMIM:615547
Winchester Syndrome
Kyphosis OMIM:277950
3C Syndrome
Aortic valve stenosis, Hypospadias, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular... ORPHA:7
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Dystonia, Kyphosis, Lower limb hypertonia OMIM:614898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Hypotonia,... OMIM:609029
Transaldolase Deficiency
Hepatic fibrosis, Failure to thrive, Micronodular cirrhosis, Decreased liver function, Hepatosple... OMIM:606003
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Alpha-Mannosidosis
Hypotonia, Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Macroglossia, Scoli... ORPHA:61
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Hypotonia, ... OMIM:230500
Zimmermann-Laband Syndrome 2
Generalized hypotonia, Hypotonia, Short neck, Macroglossia, Kyphosis OMIM:616455
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Claw hand deformity, Short neck, Muco... OMIM:252605
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Finger joint contracture, Acute... ORPHA:48431
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Scapular mu... OMIM:181405
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Gm1 Gangliosidosis
Spasticity, Hepatosplenomegaly, Ventricular septal defect, Weight loss, Abnormal heart morphology... ORPHA:354
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Paroxysmal dystonia, Ventricular septal defect, Limb hyp... OMIM:619909
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Short neck, Pulmonic stenosis, Kyphosis, Wide anterior fon... ORPHA:3098
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Hypotonia, Scoliosis, Kyphosis OMIM:619797
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253000
Lopes-Maciel-Rodan Syndrome
Spasticity, Hypertonia, Dystonia, Scoliosis, Kyphosis, Axial hypotonia OMIM:617435
Sjögren-Larsson Syndrome
Spasticity, Hypotonia, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoton... OMIM:614886
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... OMIM:151800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Hypotonia, Scoliosis, Kyphosis OMIM:300676
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Generalized hypotonia, Hypoton... OMIM:314580
Flynn-Aird Syndrome
Skeletal muscle atrophy, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of... ORPHA:2047
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, El... OMIM:615381
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Neonatal hypotonia, Obesity, Vesicoureteral reflux, Hyperuricemia, Protei... ORPHA:261222
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Failure to thrive, Neon... ORPHA:456312
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Hypotonia, Patent foramen oval... OMIM:619167
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis, Kyphosis, Hypergonadotropic ... ORPHA:3085
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,... OMIM:603387
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis ORPHA:3454
Diaphanospondylodysostosis
Unossified sacrum, Delayed vertebral ossification, Generalized hypotonia, Horseshoe kidney, Hypot... OMIM:608022
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Short neck, Hypoplasia... ORPHA:3409
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Trisomy 13
Abnormality of the ureter, Hypotonia, Displacement of the urethral meatus, Hydronephrosis, Ventri... ORPHA:3378
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Slender build, Facial hypotonia, Hydronephrosis, Micropenis, Abnormality of muscle si... ORPHA:364028
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormality of the ure... ORPHA:2311
Sialidosis Type 1
Aminoaciduria, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Urinary excretion ... ORPHA:812
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Limb hypertonia, Infantile muscular hypotonia, Dystonia, Kyphosis ORPHA:500180
Mucopolysaccharidosis Type 6
Failure to thrive, Abnormal heart valve morphology, Splenomegaly, Short neck, Mucopolysaccharidur... ORPHA:583
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Pelger-Huet Anomaly
Failure to thrive, Foot dorsiflexor weakness, Ventricular septal defect, Kyphosis, Lower limb hyp... OMIM:169400
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gall... ORPHA:2075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Severe ... OMIM:618291
Distal Triplication 15Q
Horseshoe kidney, Abnormal heart morphology, Large for gestational age, Hypotonia, Hydronephrosis... ORPHA:314588
Thanatophoric Dysplasia
Platyspondyly, Hypotonia, Abnormal sacroiliac joint morphology, Atrial septal defect, Kyphosis ORPHA:2655
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Generalized hypotonia, Hip contracture, Weakness of facial musculature, Short neck, A... OMIM:301041
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Hypertonia, Congenital finger flexion... OMIM:108145
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Splenomegaly, Increased circulating inosine concentration, I... OMIM:613179
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Atypical Rett Syndrome
Spasticity, Neonatal hypotonia, Abnormal muscle tone, Hypotonia, Dystonia, Scoliosis, Kyphosis ORPHA:3095
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Hypotonia, Kyphosis OMIM:615433
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Generalized hypotonia, Failure to thrive in infanc... OMIM:162300
Shashi-Pena Syndrome
Unilateral renal agenesis, Hypotonia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Atrial se... OMIM:617190
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Scoliosis, Kyphosis OMIM:610743
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Infantile ... ORPHA:15
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Thanatophoric Dysplasia Type 2
Platyspondyly, Hypotonia, Atrial septal defect, Kyphosis ORPHA:93274
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Obesity, Biconcave ... OMIM:219090
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mitral valve prolapse, Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect ORPHA:2617
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Camptodactyly of finger, Hypotonia, Ves... OMIM:619951
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Hepatitis, Panc... OMIM:610199
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tubuloint... OMIM:203800
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Generalized hypotonia, Vesicoureteral reflux, Spond... OMIM:610443
Pelizaeus-Merzbacher Disease
Spasticity, Failure to thrive in infancy, Hypotonia, Cachexia, Dystonia, Scoliosis, Kyphosis ORPHA:702
Koolen-De Vries Syndrome
Hypotonia, Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Bicuspid aortic ... ORPHA:96169
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Arm dystonia, Skeletal muscle atrophy, Neonatal hypotonia, Lower limb muscle weakness... ORPHA:88644
Crisponi Syndrome
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Increased intervertebral space, Mitral valve prolapse, Opisth... ORPHA:508533
Mosaic Trisomy 9
Camptodactyly of finger, Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelas... ORPHA:99776
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Spasticity, Hypotonia, Ventricular septal defect, Hydronephrosis, Atrial septal defe... OMIM:616449
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Decreased response to growth hormone sti... ORPHA:324737
Mosaic Trisomy 20
Spinal canal stenosis, Horseshoe kidney, Hypotonia, Abnormal mitral valve morphology, Vertebral s... ORPHA:1724
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypotonia, Abnormal sacroiliac joint morphology, Atrial septal defect, Kyphosis, W... ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Neonatal hypotonia, Generalized hypotonia, Left ventricular noncompaction, Slender build, Left ve... OMIM:300967
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, H... ORPHA:628
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Triosephosphate Isomerase Deficiency
Spasticity, Cholelithiasis, Skeletal muscle atrophy, Failure to thrive, Generalized hypotonia, Hy... OMIM:615512
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervical verte... ORPHA:2522
Marden-Walker Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kid... ORPHA:2461
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Increased circulating insulin-like growth factor 1 concentration, Pituit... OMIM:300942
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... ORPHA:392
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Chondroitin sulfate exc... OMIM:253010
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Neonatal hy... ORPHA:398069
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ACTH concent... OMIM:219080
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, F... OMIM:260400
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomyopathy, Spondylolisthesis, Mucopolysacchariduria, He... OMIM:252600
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Cockayne Syndrome Type 2
Male hypogonadism, Lower limb spasticity, Limb hypertonia, Hepatomegaly, Flexion contracture, Sco... ORPHA:90322
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Hypotonia, Ventricular septal defect, Scoliosis, Kyphosis ORPHA:404440
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Spasticity, Hypotonia, Kyphoscoliosis, Hydronephrosis, Ventricular septal defect, Pe... OMIM:301040
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:261190
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmonic stenosis OMIM:609008
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Skeletal muscle atrophy, Hypotonia, Facial palsy, Arthrogryposis multiplex congenita, ... OMIM:617143
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Mucopolysaccha... ORPHA:582
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hypotonia, Ventricular septal defect, Atrial septal defect, Scapular winging, Scoliosis, Kyphosis OMIM:617061
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Neonatal hypotonia, Hypogonadism, Hypotonia, Micropenis, Flexion contracture, ... ORPHA:500055
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Lateral Meningocele Syndrome
Decreased muscle mass, Hypotonia, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid... OMIM:130720
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Short neck, Spina bifida occulta, Hypoplasia of penis, Kyphosis ORPHA:2983
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog... OMIM:613673
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Horseshoe kidney, Abnormal heart morphology, Pyelonephritis, Pancrea... OMIM:301111
4Q21 Microdeletion Syndrome
Hypotonia, Short neck, Scoliosis, Kyphosis ORPHA:238750
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary ... OMIM:309900
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Obesity, Hypotonia, Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, ... OMIM:618443
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Prader-Willi Syndrome
Precocious puberty, Neonatal hypotonia, Class III obesity, Decreased muscle mass, Decreased HDL c... OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Failure to thrive, Congenital diaphragmatic hernia, Ventricular septal defect, Atria... OMIM:617602
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Hypotonia, Ventricular septal defect, Short neck, Hyperlor... ORPHA:2789
Hurler Syndrome
Hypoplasia of the odontoid process, Cardiomyopathy, Heparan sulfate excretion in urine, Hepatospl... OMIM:607014
Desbuquois Dysplasia 1
Platyspondyly, Generalized hypotonia, Obesity, Hypotonia, Short neck, Hyperlordosis, Scoliosis, K... OMIM:251450
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Flexion contracture, Scoliosis, Kyphosis OMIM:609541
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Hurler-Scheie Syndrome
Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the distal interphala... OMIM:607015
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Cachexia, Dystonia, Scoliosis, Kyphosis OMIM:312750
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy ORPHA:64755
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Generalized hypotoni... OMIM:183900
Clark-Baraitser syndrome
Obesity, Scoliosis, Kyphosis OMIM:300602
Mgat2-Cdg
Failure to thrive, Generalized hypotonia, Abnormal heart morphology, Hypotonia, Ventricular septa... ORPHA:79329
Mend Syndrome
Aortic valve stenosis, Wide anterior fontanel, Failure to thrive, Generalized hypotonia, Abnormal... ORPHA:401973
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Camptodactyly of finger, Hypogonadism, Generaliz... ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Spasticity, Cholelithiasis, Male urethral meatus stenosis, Hypotonia, Contracture of... ORPHA:464738
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Beaking of vertebral... OMIM:108300
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Failure to thrive, Scoliosis, Kyphosis ORPHA:2115
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly... OMIM:619123
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hypotonia, Hyperuricemia, Hydroxyproline... OMIM:239000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Small f... ORPHA:464311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Elbow flexion contracture, Kyph... ORPHA:93360
Alkaptonuria
Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r... OMIM:203500
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Generalized hypotonia, Bladder diverticulum, Hyperlordosis, Scoliosis, Kyphosis OMIM:617821
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hypotonia, Abnormal tricuspid val... ORPHA:192
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormality of the... ORPHA:261318
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Jaberi-Elahi Syndrome
Failure to thrive, Hypotonia, Appendicular spasticity, Dystonia, Scoliosis, Kyphosis OMIM:617988
Ruvalcaba Syndrome
Delayed puberty, Scoliosis, Kyphosis OMIM:180870
Cohen Syndrome
Failure to thrive in infancy, Obesity, Hypotonia, Mitral valve prolapse, Ventricular septal defec... ORPHA:193
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis ORPHA:2771
Mucolipidosis Type Ii
Cardiomyopathy, Hepatosplenomegaly, Diastasis recti, Appendicular hypotonia, Hip contracture, Abn... ORPHA:576
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Micro Syndrome
Spasticity, Hypotonia, Hydronephrosis, Delayed puberty, Hypoplasia of penis, Scoliosis, Kyphosis ORPHA:2510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Complete atrioventricular canal defect, Urinary incontinence, S... ORPHA:476126
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger ORPHA:1883
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Hypotonia, Mitral valve prolapse, Anterior concavity of thoracic v... OMIM:249420
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Obesity, Short neck, Cachexia, Hypoplasia of penis, Scolio... ORPHA:85293
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Hypotonia, Scoliosis, Kyphosis ORPHA:261144
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Hypotonia, Mitral valve prolapse, Short neck, Scapular winging, Kyph... OMIM:619745
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... ORPHA:2916
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
3M Syndrome
Hypospadias, Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, ... ORPHA:2616
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Hematuria, Delayed puberty, Scoliosis, Kyphosis ORPHA:3121
Schwartz-Jampel Syndrome
Abnormality of the ureter, Myopathy, Hip contracture, Decreased body weight, Short neck, Cachexia... ORPHA:800
Weismann-Netter Syndrome
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Small for gestational age, Failure... ORPHA:464306
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Abnormal ci... ORPHA:2215
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Generalized hypotonia, Hypotonia, Caudal interpedicular narrowing, Scoliosis, Posterior... OMIM:603546
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Kyphosis, Short neck ORPHA:3082
Koolen-De Vries Syndrome Due To A Point Mutation
Neonatal hypotonia, Slender build, Hand muscle atrophy, Ventricular septal defect, Bicuspid aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Neonatal hypotonia, Slender build, Hand muscle atrophy, Ventricular septal defect, Bicuspid aorti... ORPHA:363958
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Abnormality of the thyroid gland, Abnormal mitral valve morphology, Cach... ORPHA:1969
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Cono-Spondylar Dysplasia
Failure to thrive, Hypotonia, Short neck, Scoliosis, Kyphosis ORPHA:420794
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Hypotonia, Hand muscle atrophy, Facial palsy, Scoliosis, Kyphosis OMIM:211530
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Neonatal death, Urinary incontinence, Kyphosis, Wide anterio... OMIM:616482
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Generalized hypotonia, Elbow flexion contracture, Obesity, Hip contracture, Scoliosis, Kyphosis OMIM:618493
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Congenital hypothyroidism, Hypotonia, Rigidi... OMIM:617527
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Camptodactyly of finger, Hypotonia, Ventricular s... ORPHA:251014
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Generalized hypotonia, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis ORPHA:88628
Poland Syndrome
Renal hypoplasia, Ureterocele, Abnormality of the liver, Vesicoureteral reflux, Congenital diaphr... ORPHA:2911
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormality of the vertebral column, Urinary retention, Hypertrophic car... ORPHA:1328
Alexander Disease
Precocious puberty, Spasticity, Failure to thrive, Hypotonia, Short neck, Hypothyroidism, Hyperlo... ORPHA:58
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Contracture of the proximal interphalangea... OMIM:618223
Mend Syndrome
Aortic valve stenosis, Failure to thrive, Crossed fused renal ectopia, Hypotonia, Axial hypotonia... OMIM:300960
Zttk Syndrome
Unilateral renal agenesis, Spasticity, Failure to thrive, Neonatal hypotonia, Horseshoe kidney, H... OMIM:617140
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Hypotonia, Rigidity, Progressive spastic qua... ORPHA:521426
Pycnodysostosis
Spondylolysis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Spondyl... ORPHA:763
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Failure to thrive, Hypotonia, Kypho... OMIM:602535
Megalocornea-Intellectual Disability Syndrome
Hypotonia, Hypothyroidism, Hypercholesterolemia, Scoliosis, Kyphosis ORPHA:2479
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Hajdu-Cheney Syndrome
Aortic valve stenosis, Failure to thrive, Hypoplastic 5th lumbar vertebrae, Mitral stenosis, Bico... ORPHA:955
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypotonia, Mitral valve prolapse, Kyphoscoliosis, Thoracic scoliosis, Hypertriglyceridemia, Peric... ORPHA:536532
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, ... OMIM:616894
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Myopathy, Hypospadias, Annular pancreas, Tetralogy ... ORPHA:1606
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Hypocalcemia, Rigidity,... OMIM:618476
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Microphthalmia, Lenz Type
Hypospadias, Hydroureter, Camptodactyly of finger, Hydronephrosis, Hyperlordosis, Scoliosis, Kyph... ORPHA:568
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Decreased body weight, Hepatomegaly, Micropenis, Scoliosis, Kyphosis OMIM:619005
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Platyspondyly, Joint contracture of the... OMIM:309000
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:261250
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Hypotonia, Biconcave vertebral bodies, Kyphoscoliosis, Ventricular septal defect, ... OMIM:259770
Postencephalitic Parkinsonism
Oculogyric crisis, Cogwheel rigidity, Rigidity, Camptocormia, Kyphosis ORPHA:97349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Small hypothenar eminence, Absence of secondary... ORPHA:2232
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Unilateral renal agenesis, Small for gestational age, Abnormal heart morph... ORPHA:268261
Cole-Carpenter Syndrome
Hypotonia, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Cole-Carpenter Syndrome 2
Platyspondyly, Hypotonia, Kyphosis OMIM:616294
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Abdominal situs inversus, Hemivertebrae, Abnormal interverte... ORPHA:2062
Weaver Syndrome
Joint contracture of the hand, Spasticity, Generalized hypotonia, Hypotonia, Diastasis recti, Hyp... OMIM:277590
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary va... ORPHA:1507
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Hyperbilirubinemia, Hepatic steatosis, Ventricular septal defect, Hematuria, Bicuspid... OMIM:619475
Spondyloenchondrodysplasia
Chronic kidney disease, Platyspondyly, Spasticity, Hepatitis, Decreased response to growth hormon... ORPHA:1855
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Atrioventricular canal defec... ORPHA:818
Monosomy 9Q22.3
Abnormality of the vertebral column, Large for gestational age, Hypotonia, Cardiac fibroma, Short... ORPHA:77301
Williams Syndrome
Spasticity, Type II diabetes mellitus, Myopathy, Ventricular septal defect, Mitral valve prolapse... ORPHA:904
Rett Syndrome, Congenital Variant
Spasticity, Neonatal hypotonia, Generalized hypotonia, Dystonia, Scoliosis, Kyphosis OMIM:613454
Cockayne Syndrome
Spasticity, Absence of pubertal development, Cachexia, Urinary incontinence, Nephrotic syndrome, ... ORPHA:191
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Hepatic sinusoidal dilatation, Hypotonia, Splenic cyst, Patent foramen ovale, Decreas... OMIM:620371
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Spastic paraplegia, Generalized dystonia, Foot dorsiflexor weakness, Lower lim... ORPHA:171629
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hypotonia, Knee flexion contractur... OMIM:618019
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Hypotonia, Kyphosis, Mitral valve prolapse OMIM:616914
Dysostosis, Stanescu Type
Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis ORPHA:1798
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Sacral dimple, Hyperinsulinemia, ... OMIM:620185
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis, Mitral valve prolapse OMIM:177850
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Elbow flexion contracture, Hypotonia, Hip contracture, Kn... OMIM:619194
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Tricuspid stenosis, Camptodactyly of finger, Lumb... OMIM:143095
Cowden Syndrome 5
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Kyphosis, Thyroiditis OMIM:615108
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Generalized hypotonia, Prominent protruding coccyx, Short neck, Prominent coccyx, Dys... OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 57
Failure to thrive, Generalized hypotonia, Contracture of the proximal interphalangeal joint of th... OMIM:618050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Hypotonia, Scoliosis, Kyphosis OMIM:619557
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Short neck... ORPHA:99226
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Lumbar hyperlordosis, Large for gestational age, Facial hypotonia, Hypotonia, Kyph... ORPHA:457359
Cowden Syndrome 6
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Kyphosis, Thyroiditis OMIM:615109
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Small for gestational age, Abnormal form of the vertebral b... OMIM:194190
Oculocerebrorenal Syndrome Of Lowe
Neonatal hypotonia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, ... ORPHA:534
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
Shprintzen Omphalocele Syndrome
Generalized hypotonia, Hypotonia, Lumbar hyperlordosis, Decreased body weight, Scoliosis, Kyphosis OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 73
Premature adrenarche, Spasticity, Hydroureter, Lumbar hyperlordosis, Hypotonia, Knee flexion cont... OMIM:620450
Campomelic Dysplasia
Hydronephrosis, Short neck, Poorly ossified cervical vertebrae, Scoliosis, Kyphosis ORPHA:140
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Testicular atrophy, Kyphoscoliosis, Ectopic kidney, Infantile muscular hyp... ORPHA:3063
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating growth horm... ORPHA:79318
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Generalized hypotonia, Hypotonia, Aspartylglucosaminuri... OMIM:208400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Cowden Syndrome 1
Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyroidism, Scoliosis, Kyphosis, Thyroiditis OMIM:158350
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Failure to thrive, Muscular ventricular septal defect, Hypotonia, ... OMIM:278250
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Kyphosis, Ventricular septal defect ORPHA:1393
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Scoliosis, Kyphosis OMIM:619718
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis, Wide anterior fontanel OMIM:610915
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Acromegaly
Long penis, Pituitary prolactin cell adenoma, Spinal canal stenosis, Hypertrophic cardiomyopathy,... ORPHA:963
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Kyphosis, Ventricular septal defect OMIM:153400
Sarcoidosis
Nephrocalcinosis, Hepatic failure, Diabetes insipidus, Decreased liver function, Renal insufficie... ORPHA:797
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hypotonia, Large for gestational age, Hyperlordosis, Scoliosis, Kyphosis OMIM:617011
Stickler Syndrome
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... ORPHA:828
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Cockayne Syndrome A
Failure to thrive, Hypogonadism, Renal insufficiency, Splenomegaly, Hip contracture, Thymic hormo... OMIM:216400
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Hypogonadism, Hypotonia, Facial palsy, Scoliosis, Kyphosi... ORPHA:2658
Somatomammotropinoma
Pituitary adenoma, Increased circulating prolactin concentration, Spinal canal stenosis, Hypertro... ORPHA:314769
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Goiter, Neoplasm of t... ORPHA:201
Osteogenesis Imperfecta
Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bodies, Enlarged ver... ORPHA:666
Marfan Syndrome
Skeletal muscle atrophy, Slender build, Hypotonia, Spondylolisthesis, Mitral valve prolapse, Tric... ORPHA:558
Cockayne Syndrome B
Small for gestational age, Failure to thrive, Renal insufficiency, Splenomegaly, Proteinuria, Sev... OMIM:133540
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Tetralogy of Fallot, Hypotonia, Congenital diaphragmatic hernia, V... OMIM:135900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Hypogonadism, Myopathy, Hip contracture, Posterior scallop... ORPHA:3042
Alström Syndrome
Chronic kidney disease, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomeg... ORPHA:64
Sotos Syndrome
Abnormal vertebral morphology, Hip contracture, Ventricular septal defect, Atrial septal defect, ... ORPHA:821
Cdags Syndrome
Rectourethral fistula, Hypospadias, Kyphosis OMIM:603116
Occipital Horn Syndrome
Platyspondyly, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ... OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Kyphosis, Wide anterior fontanel ORPHA:85199
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Kyphosis, Knee flexion contracture OMIM:619708
Occipital Horn Syndrome
Platyspondyly, Hepatitis, Cholestasis, Hypotonia, Bladder diverticulum, Jaundice, Scoliosis, Kyph... ORPHA:198
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Kyphosis OMIM:609944
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperuricemia ORPHA:2769
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Viss Syndrome
Coronary sinus enlargement, Right ventricular dilatation, Failure to thrive, Hypotonia, Butterfly... OMIM:619472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Hypotonia, Scoliosis, Kyphosis OMIM:619482
17Q11 Microdeletion Syndrome
Precocious puberty, Elevated circulating parathyroid hormone level, Abnormality of the vertebral ... ORPHA:97685
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Kyphosis ORPHA:394
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Abnormal vertebral morphology, Hydroureter, Abnormality of the vertebral column, F... ORPHA:2273
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Primrose Syndrome
Elevated circulating alpha-fetoprotein concentration, Distal amyotrophy, Skeletal muscle atrophy,... OMIM:259050
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of the adrenal glands, Facial palsy ORPHA:68
Proteus Syndrome
Long penis, Thymus hyperplasia, Abnormal form of the vertebral bodies, Decreased muscle mass, Myo... ORPHA:744
Coffin-Lowry Syndrome