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Gene: Arg2 MGI:1330806

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Gene Summary

Name:
arginase type II
Synonyms:
AII

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
abnormal thymus morphology Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
lordosis Arg2em1(IMPC)Ccpcz HOM   Early adult 9.21×10-06
enlarged heart Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart shape Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Arg2em1(IMPC)Ccpcz HOM Early adult 7.66×10-05
abnormal spleen morphology Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased exploration in new environment Arg2em1(IMPC)Ccpcz HOM Early adult 9.60×10-08
abnormal auditory brainstem response Arg2em1(IMPC)Ccpcz HOM   Early adult 5.11×10-07
abnormal heart morphology Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Arg2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Arg2em1(IMPC)Ccpcz HOM   Early adult 8.98×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

33 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Arg2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arg2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis OMIM:300718
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Kyphosis, Sensorineural hearing impairment, Cognitive impairment, Scoliosis ORPHA:2744
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Progressive psychomotor deterioration, Motor deterioration,... ORPHA:796
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Mucolipidosis Type Iii
Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a... ORPHA:577
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco... OMIM:601382
Isolated Glycerol Kinase Deficiency
EEG abnormality, Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Myosclerosis, Autosomal Recessive
Facial palsy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity OMIM:255600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Hyperlordosis, Cryptorchidism, Sensorineural hearing impair... ORPHA:1192
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Ethanolaminosis
Cardiomegaly OMIM:227150
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Dilated cardiomyopathy, Thoracic kyphosis, Left ventric... ORPHA:206546
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Myopathy, Distal, 1
Lumbar hyperlordosis, Facial palsy, Left atrial enlargement, Dilated cardiomyopathy, Scoliosis OMIM:160500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Lumbar hyperlordosis, Spinal rigidity OMIM:609308
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Rigid Spine Syndrome
Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia, Kyphoscoliosis, Cardiomegaly OMIM:300886
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Sensorineural hearing impairment, Lumbar hyperlordosis, Scoliosis OMIM:616756
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, Protruding ear OMIM:610313
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Hyperlordosis ORPHA:352470
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Ovoid thoracolumb... OMIM:252920
Ck Syndrome
Posteriorly rotated ears, Hyperlordosis, Kyphosis, Irritability, Scoliosis OMIM:300831
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Cystic lesions of the pinnae,... OMIM:222600
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis OMIM:161800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Scoliosis, Hearing impairment OMIM:617087
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Depression, Patent foramen ovale, Hyperlordosis OMIM:615156
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity OMIM:618323
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis OMIM:252605
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Kyphosis, Scoliosis, Hearing impairment ORPHA:101075
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cognitive impairment, Thrombocytop... ORPHA:858
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis ORPHA:62
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Optic atrophy, Irritability, Hypertrophic cardiomyopathy, Hearing impairment OMIM:618237
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Cryptorchidism, Scoliosis, Left ventricular hypertrophy OMIM:613156
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... OMIM:619542
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Kyphosis, Scoliosis, Hearing impairment ORPHA:101078
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Lumbar hyperlordosis, Scoliosis, Right ventricular hypertrophy ORPHA:353
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Kyphosis, Sensorineural hearing impairment, Polycystic ovaries, De... ORPHA:3085
Ck Syndrome
Irritability, Lumbar hyperlordosis, Posteriorly rotated ears, Kyphoscoliosis ORPHA:251383
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears, Abnormal reticulocyt... ORPHA:2522
Jansen-De Vries Syndrome
Posteriorly rotated ears, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Low-se... OMIM:617450
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis OMIM:615761
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Facial palsy, Frontotemporal dementia, Dementia OMIM:167320
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Frontotemporal dementia, Cranial nerve compression, Cardiomyopathy, Abnormality of... ORPHA:52430
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Posteriorly rotated ears, Hyperlordosis, Macrot... OMIM:619980
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy, Lumbar hyperlordosis, Facial palsy, Scoliosis OMIM:255310
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Cardiomyopathy, Scoliosis, Left ventricular hypertrophy ORPHA:86812
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Emotional lability, Lumbar hyperlordosis, Memory impairment ORPHA:435387
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis, Depression OMIM:619467
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis,... OMIM:618363
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Hyperlordosis, Cryptorchidism, Abnormal antihelix morphology, ... ORPHA:1387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy, Scoliosis, Hyperlordosis OMIM:253700
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial palsy, Hyperlordosis, Protruding ear, Facial diplegia, Le... ORPHA:169186
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Attent... ORPHA:313892
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Cogn... ORPHA:583
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Sensorineural hearing ... OMIM:616817
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy OMIM:618234
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis OMIM:607155
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Optic atrophy, Abnormal form of... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, EEG abnormality, Scoliosis, Macrotia, Scheuermann-like vertebral change... OMIM:301900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Myopathy, Scapulohumeroperoneal
Facial palsy, Scoliosis, Hyperlordosis OMIM:616852
Mulchandani-Bhoj-Conlin Syndrome
Posteriorly rotated ears, Scoliosis, Hyperlordosis OMIM:617352
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Kyphoscoliosis, Cardi... OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:606612
Facioscapulohumeral Dystrophy
Sensorineural hearing impairment, Hyperlordosis ORPHA:269
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Depression ORPHA:276630
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodi... OMIM:619698
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment ORPHA:99014
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Spinal canal stenosis, Hypertrophic car... ORPHA:85451
Myopathy, Centronuclear, 1
Facial palsy, Hyperlordosis OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Lateral Meningocele Syndrome
Ventricular septal defect, Posteriorly rotated ears, Hyperlordosis, Short neck, Kyphosis, Cryptor... ORPHA:2789
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Attention deficit h... OMIM:618870
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis ORPHA:2598
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Attention deficit hyperactivity disorder OMIM:620007
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Dystonia 1, Torsion, Autosomal Dominant
Facial palsy, Hyperlordosis, Kyphosis, Depression, Scoliosis OMIM:128100
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduction velocity, Sensori... OMIM:601455
Sialidosis Type 2
Splenomegaly, Kyphosis, Hearing impairment, Hepatomegaly ORPHA:87876
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Winchester Syndrome
Kyphosis OMIM:277950
Amyotrophic Lateral Sclerosis 27, Juvenile
Dementia, Scoliosis, Hyperlordosis OMIM:620285
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, Low-set ears OMIM:618393
Nemaline Myopathy 2
Low-set ears, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:256030
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Hepatomegaly, Hepatic steatosis, Hyperlordosis ORPHA:369840
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Dilated cardio... OMIM:230500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Progressive neurologic deterioration, Scoliosis, Protruding ear ORPHA:85317
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Low-set ears, Atrial septal defec... ORPHA:352490
Steel Syndrome
Sensorineural hearing impairment, Lumbar hyperlordosis, Scoliosis OMIM:615155
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis, Hearing impairment OMIM:619451
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Low-set ears ORPHA:89844
Oculoskeletodental Syndrome
Hyperlordosis, Sensorineural hearing impairment, Thoracic kyphosis, Scoliosis, Conductive hearing... ORPHA:557003
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Cdkl5-Deficiency Disorder
Kyphosis, Multifocal epileptiform discharges, Scoliosis ORPHA:505652
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Sensorineural hearing impairment, Irregular vertebral endplates, Platyspond... OMIM:609616
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Combined Oxidative Phosphorylation Deficiency 8
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ... OMIM:216550
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:269920
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Scoliosis, Cardiomegaly ORPHA:3137
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Macrotia, Posteriorly rotated ears OMIM:618392
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Scoliosis, Abnormal helix morphology, Macrotia,... ORPHA:61
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis ORPHA:98855
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... OMIM:600462
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis, Hypertrophic cardiomy... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis, Hypertrop... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis, Hypertrop... ORPHA:98853
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sensorineural hearing impairmen... OMIM:256550
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype... OMIM:252930
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Absent brainstem auditory responses, Cardiomegaly, Sensorineura... ORPHA:79330
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Protruding ear, Lumbar kyphosis in... ORPHA:3041
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Posteriorly rotated ea... OMIM:613385
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Protruding ear, Scoliosis, Low-se... OMIM:618443
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hearing impairment, Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis, Hearing impairment OMIM:610743
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hyperlordosis, Mitral valve prolapse, Attention deficit hyperactivity disorder, Scoliosis, Atrial... OMIM:300986
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Cardiomegaly, Hyperlordosis, Brachial plexus neuropathy, Right ventricular hyper... ORPHA:268
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Protruding ear, Abdominal situs in... OMIM:619123
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Decre... OMIM:619185
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis, EEG abnormality ORPHA:1858
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:181405
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Low-set ears OMIM:314580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Facial diplegia, Scoliosis, Low-set ears OMIM:611890
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Biliary tract abnormality, Membranous su... ORPHA:3191
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegia, Scoliosis ORPHA:171436
Sialidosis Type 1
Decreased nerve conduction velocity, Splenomegaly, Kyphosis, Sensorineural hearing impairment, Ab... ORPHA:812
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... OMIM:619260
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Overfolded helix, Mitra... ORPHA:324410
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Mitral valve prolapse ORPHA:171881
Muscular Dystrophy, Duchenne Type
Cardiomyopathy, Dilated cardiomyopathy, Scoliosis, Hyperlordosis OMIM:310200
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Hearing impairment ORPHA:319199
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Kyphosis, Hypersplenism, Thrombocytopenia, Sple... ORPHA:77259
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineu... OMIM:617796
Tyrosinosis
Hypertyrosinemia OMIM:276800
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Infantile sensorineural hearing impairment, Mitral valve prol... ORPHA:2848
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebra... ORPHA:175
Three M Syndrome 3
Increased vertebral height, Protruding ear, Hyperlordosis, Short neck OMIM:614205
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Dementia, Scoliosis, Mental deterioration, Hearing impairment OMIM:614409
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... OMIM:255800
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... ORPHA:349
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... OMIM:617022
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Kyphosis, Cryptorchidism, EEG abnormality, Vertebral segmentat... ORPHA:2617
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy ORPHA:79327
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Cognitive impairment OMIM:614898
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Low-set ears, Scoliosis ORPHA:178148
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia, Depression OMIM:184850
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Abnormal pinna morphology, Hyperlordosis, Abnormal heart morpho... ORPHA:26791
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy OMIM:615084
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly ORPHA:85447
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Abnormality of peripheral nerve conduction, Scoliosis ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis OMIM:611588
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Facial palsy, Scoliosis ORPHA:353327
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
3Mc Syndrome
Abnormal pinna morphology, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Hearing... ORPHA:293843
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Hepatic steatosis OMIM:615980
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Osteopathia Striata-Cranial Sclerosis Syndrome
Posteriorly rotated ears, Facial palsy, Hyperlordosis, Scoliosis, Low-set ears, Conductive hearin... ORPHA:2780
Three M Syndrome 1
Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreased testicular... OMIM:273750
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive impairment, Pulmonic stenosis ORPHA:3098
Pycnodysostosis
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... ORPHA:763
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis OMIM:619040
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Confusion, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocard... OMIM:212140
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... OMIM:618652
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Te... OMIM:235200
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Cryptorchidism, Protruding ear, Scoliosis, Macrotia ORPHA:2471
Stiff Person Spectrum Disorder
Emotional lability, Lumbar hyperlordosis ORPHA:3198
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Anemia, Cardiomegaly OMIM:618838
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis OMIM:114300
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Scoliosis, Hepatic steatosis OMIM:613327
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Camurati-Engelmann Disease
Hepatomegaly, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Optic atrophy, Leukopenia, Abn... ORPHA:1328
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Small earlobe, Ovoid vertebral... ORPHA:93315
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Cardiomegaly OMIM:613576
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Cognitive impairment, Kyphosis, Sensorineural hearing impairment, Scoliosis ORPHA:1883
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Optic atrophy, Enlarged kidney, Lumbar kyphos... ORPHA:505248
Hemifacial Atrophy, Progressive
Kyphosis, Microtia, Horner syndrome OMIM:141300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Low-set ears, Attention deficit hyperactivity disorder, Macrotia, Decre... OMIM:615433
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... OMIM:607095
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Facial palsy, Spinal rigidity, Thoracic kyphosis, Scoliosis OMIM:617114
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Saethre-Chotzen Syndrome
Hyperlordosis, Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural ... ORPHA:794
Myotonia Permanens
Hyperlordosis ORPHA:99735
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Flynn-Aird Syndrome
Kyphosis, EEG abnormality, Dementia, Scoliosis, Progressive sensorineural hearing impairment ORPHA:2047
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... OMIM:242900
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Kyphosis, Abnormal fo... ORPHA:2635
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormality of the vertebral spinous processes, Short attention span, Abnormal... ORPHA:909
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Genitopalatocardiac Syndrome
Kyphosis, Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Abnormal... ORPHA:2075
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Hyperlordosis, External ear malformation, Cryptorchidism, Kyph... ORPHA:568
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis OMIM:618138
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Protruding ear, Short neck OMIM:612921
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear, Scoliosis ORPHA:2616
Achondroplasia
Lumbar hyperlordosis, Hearing impairment, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis... ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Hepatomegaly, Short attention span, Posteriorly rotated ears, Hyp... OMIM:301066
Chromosome 10Q26 Deletion Syndrome
Short attention span, Lumbar hyperlordosis, Short neck, Cryptorchidism, Sensorineural hearing imp... OMIM:609625
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis, Protruding ear OMIM:300861
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Hyperlordosis, Hypoplasia of the odontoid ... OMIM:616007
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Short neck, Abnormal auditory evoked potentials, Cryptorchidism, Scoliosis, Spina... OMIM:193700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal pinna morphology, Protruding ear, Facial palsy, Hyperlordosis ORPHA:3068
Pelvis-Shoulder Dysplasia
Back pain, Optic disc coloboma, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... OMIM:253200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormality of the vertebral column, Abnormal auditory evoked p... OMIM:109120
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Lumbar hyperlordosis, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperpla... OMIM:162300
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Microtia, Low-set ears, Brea... ORPHA:1439
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Cognitive impairment, Atrial septal defect, Hearing impairment ORPHA:93274
Congenital Myopathy 10B, Mild Variant
Scoliosis, Hyperlordosis OMIM:620249
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, P... OMIM:226980
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Frank-Ter Haar Syndrome
Kyphosis, Protruding ear, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Posteriorly rotated ears, Short neck, Sensor... ORPHA:1427
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Hyperlordosis ORPHA:3130
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Macrotia, Scoliosis, Cryptorchidism OMIM:619797
Hurler Syndrome
Hepatomegaly, Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid proces... OMIM:607014
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... ORPHA:324737
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Platyspondyly, Decrea... ORPHA:1830
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Protruding ear, Depression, EEG abnormality, Attention d... OMIM:618798
15Q14 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Low-set ears, Scoliosis, Atrial septal defect ORPHA:261190
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Depression, EEG abnormality, Abnormal autonomi... ORPHA:58
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Depression, Ovarian cyst, Mental deterioration, Emotional lability, Pancreatitis OMIM:610475
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Depression, Macronodular adrenal hyperplasia, Mental deterioration... OMIM:219080
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Mental deterioration, Cardiomegaly OMIM:619051
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short neck, Microtia, Low-set ears, Dysplastic sacrum, Severe platyspondyly OMIM:613320
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Lumbar hyperlordosis, Sensorineural hearing impairment, Coronal cleft v... OMIM:215150
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Lumbar ky... OMIM:619234
Trichorhinophalangeal Syndrome Type 1
Macrotia, Protruding ear, Scoliosis, Hyperlordosis ORPHA:77258
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Sensorineural hearing impairment, Optic atro... ORPHA:3378
Zimmermann-Laband Syndrome 2
Kyphosis, Sensorineural hearing impairment, Short neck OMIM:616455
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Low-set ears, Atrial septal defect... ORPHA:2655
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru... ORPHA:363958
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Posteriorly rotated ears, Short neck, Platyspondyly, Low-set ears OMIM:612813
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Posteriorly rotated ears, Short neck ORPHA:171866
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Hemivertebrae,... ORPHA:7
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Kyphosis, Sensorineural hearing impairment, Cryptorchidism, Scoliosis, Hepatic stea... OMIM:615381
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Kyphosis, Sensorineural hearing impairment, Scoliosis ORPHA:79107
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Short neck, Kyphosis,... ORPHA:2311
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... OMIM:601186
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Leukopenia, Scoliosis, Hypoplastic spleen, Lymphopenia, Decreas... OMIM:617053
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Kyphosis, Abnormal heart m... ORPHA:94065
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodie... ORPHA:628
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Progressive psychomotor deterioration, Hepat... OMIM:268800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity ORPHA:352447
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Papilledema, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, H... OMIM:309900
Crisponi Syndrome
Cognitive impairment, Kyphosis, Scoliosis ORPHA:1545
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Kyphosis, Scoliosis OMIM:615834
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis, Cryptorchidism, Atresia of the external auditory canal, Conductive hearing ... OMIM:602471
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Distal Deletion 10Q
Abnormal morphology of the vestibule of the inner ear, Lumbar hyperlordosis, Congenital sensorine... ORPHA:96148
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Cryptorchidism, Kyphosis, Abnormal heart morphology, Scoliosis, Low-se... ORPHA:404440
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Posteriorly rotated ears, Cardiomegaly, Short neck, Large fleshy ears,... OMIM:616897
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Short neck, External ear malformation, Kyphosis, Cryptorchidism, Condu... ORPHA:254346
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorc... OMIM:619951
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Scoliosis, Cognitive impairment, Left ventricular hype... ORPHA:365
Stickler Syndrome, Type I
Kyphosis, Sensorineural hearing impairment, Mitral valve prolapse, Platyspondyly, Morbus Scheuerm... OMIM:108300
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Scoliosis, Short neck OMIM:615065
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Abnormal pinna morphology, Low-set ears ORPHA:77300
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Hyperlordosis, Sensorineural hearing impairment, Abnormal earlobe morp... ORPHA:261330
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Abnormal heart morp... ORPHA:401973
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Iron deficiency anemia, Hepatomegaly, Cardiomegaly ORPHA:99931
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Cryptorchidism, Cardiomyopath... OMIM:212720
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Optic atrophy, Abnormality of ... ORPHA:90321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Hyperlordosis, EEG abnormality, Scoliosis, Hepatic steatosis OMIM:615356
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Hyperlordosis, Cardiomyopathy, Cognitive impairment, Scoliosis ORPHA:258
Frontorhiny
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Scoliosis, Hypopituitarism, Congenital c... ORPHA:391474
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyperplasia, Cervical lympha... ORPHA:653
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Ventricular septal defect, Short neck, Cryptorchidism, Low-set ears, Emotio... ORPHA:251028
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
EEG abnormality, Macrotia, Protruding ear, Hyperlordosis ORPHA:3253
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Kyphosis, Splenomegaly... OMIM:615512
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Low-set ears, Attention deficit hyperactivit... OMIM:616078
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Kyphosis, Cryptorchidism, Emotional lability, Decreased testicular size OMIM:300354
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis ORPHA:64755
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Cardiom... OMIM:617713
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Short neck, Cryptorchidism, Sensorineural hearing impairment... OMIM:305450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morp... ORPHA:3082
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Trichorhinophalangeal Syndrome, Type I
Macrotia, Protruding ear, Scoliosis, Hyperlordosis OMIM:190350
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, EEG abnormality ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... OMIM:271510
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Low-set ears, Scoliosis, Hearing impairment ORPHA:238750
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Sensorineural hearing impairment, Scoliosis ORPHA:464282
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spike... ORPHA:522077
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Microtia, Severe sensorineural hearing i... ORPHA:2983
Mucopolysaccharidosis Type 3
Hepatomegaly, Mixed hearing impairment, Thickened helices, Progressive neurologic deterioration, ... ORPHA:581
Cockayne Syndrome A
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:216400
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Amyloidosis, Hereditary, Transthyretin-Related
Confusion, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Dementia, Abnormal aut... OMIM:105210
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Kyphosis, Cryptorchidism, Dilated cardiomyopat... ORPHA:261250
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:277600
Emanuel Syndrome
Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Pulmonic ... OMIM:609029
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect OMIM:603387
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphol... OMIM:616975
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Mixed hearing impairment, Block vertebrae, Hyperlordosis, Short neck, Hypoplasi... OMIM:272460
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Cryptorchidism, EEG with burst suppression,... OMIM:618143
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Schwartz-Jampel Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyph... ORPHA:800
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatosplenomegal... OMIM:608013
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Optic atrophy, Optic disc pallor, Scoliosis OMIM:609541
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Hyperlordosis, Abnormal T cell subset distribution, Protruding ear, B lym... ORPHA:221139
Distal Triplication 15Q
Kyphosis, Sensorineural hearing impairment, Cupped ear, Abnormal heart morphology, Hydrocele test... ORPHA:314588
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Helsmoortel-Van Der Aa Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Facial palsy, Hy... OMIM:615873
Atypical Rett Syndrome
Kyphosis, Scoliosis, EEG abnormality ORPHA:3095
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Hearing impairment OMIM:616482
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Urban-Rogers-Meyer Syndrome
Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Overfolded helix ORPHA:3409
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect OMIM:619909
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Depression, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone stimulation test, Ky... OMIM:203800
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Low-set, posteriorly rotated ears, Ve... ORPHA:79329
Shashi-Pena Syndrome
Posteriorly rotated ears, Kyphosis, Cupped ear, Low-set ears, Scoliosis, Atrial septal defect, Ce... OMIM:617190
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon, Attention deficit hyperactivity disorder ORPHA:261222
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Atrial ... OMIM:617061
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Trichodermodysplasia-Dental Alterations Syndrome
Adenoma sebaceum, Scoliosis, Hyperlordosis ORPHA:3353
Noonan Syndrome 14
Posteriorly rotated ears, Short neck, Kyphosis, Cryptorchidism, Mitral valve prolapse, Pulmonic s... OMIM:619745
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Macrotia, Hearing impairment ORPHA:90322
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve... ORPHA:363700
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Abnormal pinna morphology, Prominent protruding coccyx, Abnormal form of th... ORPHA:2839
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
EEG with burst suppression, Thymus hyperplasia, Hypsarrhythmia OMIM:619036
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability OMIM:616881
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Cryptorchidism, Re... OMIM:301040
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Kyphosis, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Bethlem Myopathy
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:610
Rett Syndrome
Kyphosis, Motor deterioration, Scoliosis, EEG abnormality OMIM:312750
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Aplasia/Hypoplasia of the earlobes, Hemivertebrae, Abnormal form of t... ORPHA:2916
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Hearing impairment, Cardiomegaly ORPHA:391428
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Sho... OMIM:130720
Refsum Disease, Classic
Cardiomyopathy, Sensorineural hearing impairment, Cardiomegaly OMIM:266500
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Protruding ear, Scoliosis, Macrotia ORPHA:236
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Kyphosis, Splenomegaly, Conductive hearing impairment, Sensorin... ORPHA:576
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis, Protruding ear OMIM:108145
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Cockayne Syndrome B
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Marden-Walker Syndrome
Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Low-set ears OMIM:248700
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Low-set ears, Be... OMIM:619636
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis ORPHA:2020
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Schaaf-Yang Syndrome
Low-set ears, Kyphosis, Scoliosis, Cryptorchidism OMIM:615547
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Fountain Syndrome
Kyphosis, Sensorineural hearing impairment, Abnormal form of the vertebral bodies, EEG abnormalit... ORPHA:3219
Koolen-De Vries Syndrome
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Protruding ear, Vertebral segm... ORPHA:96169
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Macrotia, Lumbar hemivertebrae, Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Posteriorly rotated ears, Hyperlordosis, Kyphosis, Low-set ears, Scoliosis, Macrotia OMIM:617011
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv... ORPHA:206448
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect, Hearing impa... ORPHA:1860
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Arthrogryposis, Distal, Type 4
Kyphosis, Hypoplastic helices, Lumbar scoliosis, Scoliosis OMIM:609128
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Supravalvar pulmonary stenosis, Protruding ear, Pulmon... OMIM:620185
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Abnormal pinna morphology, Kyphosis, Scoliosis, Spina bifida occulta OMIM:618291
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Wieacker-Wolff Syndrome, Female-Restricted
Posteriorly rotated ears, Facial palsy, Short neck, Kyphosis, Low-set ears, Scoliosis OMIM:301041
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... OMIM:252500
Trisomy 20P
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the ver... ORPHA:261318
Pelizaeus-Merzbacher Disease
Kyphosis, Optic atrophy, Scoliosis, Hearing impairment ORPHA:702
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Prominent antitragus, Mitral valve prolapse, Pla... OMIM:245600
Hallermann-Streiff Syndrome
Hyperlordosis, Cryptorchidism, Optic disc coloboma, Low-set ears, Scoliosis OMIM:234100
Cowden Syndrome 5
Hearing impairment, Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter OMIM:615108
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Hearing impairment OMIM:259420
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Low frustration tolerance, Hepatic steatos... OMIM:619503
Ullrich Congenital Muscular Dystrophy 1
Facial palsy, Spinal rigidity, Kyphosis, Protruding ear, Scoliosis OMIM:254090
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:608328
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Hearing impairment, Cardiomegaly OMIM:232300
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Facial palsy, Scoliosis OMIM:617143
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism ORPHA:3121
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Biconcave vertebral bodies, Emotional lability, Vertebral compressio... OMIM:219090
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, EEG abnormality, Scol... OMIM:619005
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairm... OMIM:300257
Coffin-Lowry Syndrome
Kyphosis, Sensorineural hearing impairment, Optic atrophy, Abnormal form of the vertebral bodies,... ORPHA:192
Nail-Patella Syndrome
Back pain, Sensorineural hearing impairment, Lumbar hyperlordosis, Scoliosis OMIM:161200
Postencephalitic Parkinsonism
Kyphosis, Abnormal aggressive, impulsive or violent behavior, Camptocormia, Depression ORPHA:97349
Harrod Syndrome
Kyphosis, Protruding ear, Scoliosis, Cryptorchidism ORPHA:2115
Cowden Syndrome 1
Hearing impairment, Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Lymph... OMIM:158350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Optic atrophy, Platyspondyly, Cognitive impairment, Mental de... OMIM:618476
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Uplifted earlobe, Kyphosis, Scoliosis, Low-set ears, Atrial septal defect OMIM:616449
Cowden Syndrome 6
Hearing impairment, Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter OMIM:615109
Cohen Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Optic at... ORPHA:193
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Anteverted ear... OMIM:610443
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
2P15P16.1 Microdeletion Syndrome
Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Kyphosis, Optic atrophy, Protruding e... ORPHA:261349
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Lumbar hyperlordosis, Scoliosis OMIM:250420
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Abnormal antihelix morphology, Scoliosis, Protruding ear ORPHA:261144
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Kyphosis, Cryptorchidism, Scoliosis, Macrotia ORPHA:364028
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Hearing impairment OMIM:166220
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, Protruding ear, Verte... ORPHA:904
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal sensory nerve conduction velocity, Scoliosis ORPHA:88628
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Abnormal antihelix morphology, Vertebral segmentatio... ORPHA:1005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Thickened helices, Short neck, Hyperlordosis, Scoliosis, Low-set ears, Macroorchid... OMIM:619950
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Kyphosis, Sensorineural hearing impairment, Scoliosis, Cranial nerve motor loss, He... OMIM:211530
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation ... OMIM:608836
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Aicardi-Goutières Syndrome
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Short attention span, Hyperlordosis, Hypoplastic sweat glands, EEG abnormality, Attention deficit... ORPHA:73223
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Kyphosis, Emotional lability, Depression OMIM:610489
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Cockayne Syndrome Type 3
Hepatomegaly, Optic disc pallor, Progressive neurologic deterioration, Splenomegaly, Kyphosis, Ca... ORPHA:90324
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect OMIM:617602
Rett Syndrome, Congenital Variant
Kyphosis, Protruding ear, EEG abnormality, Irritability, Scoliosis OMIM:613454
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Cryptorc... OMIM:616894
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis, Short attention span ORPHA:88644
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Pericardial effusion, Kyphosis, Cardiomyopathy, Hepatic fibrosis, Thr... OMIM:212065
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Scoliosis ORPHA:2479
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Acanthocytosis, Cardiomegaly, Hepatic fibrosis, Ci... ORPHA:14
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Kyphosis, Optic atrophy, EEG with focal epileptiform discha... OMIM:618493
X-Linked Intellectual Disability, Cabezas Type
Short neck, Kyphosis, Abnormal earlobe morphology, EEG abnormality, Scoliosis, Decreased testicul... ORPHA:85293
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:2614
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hearing im... ORPHA:308552
Jaberi-Elahi Syndrome
Kyphosis, Optic atrophy, Protruding ear, Low-set ears, Scoliosis OMIM:617988
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Complete atrioventricular canal defect, Scoliosis, Attention deficit hyperactivity diso... ORPHA:476126
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Conductive hearing impairment, Mitral valve prolap... OMIM:618371
Micro Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Cryptorchidism, Optic atrophy, Scoliosis, Macrotia ORPHA:2510
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Kyphosis, Scoliosis ORPHA:1969
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Abnormal heart valve morphology, Kyphosis, Cryp... ORPHA:280
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Kyphosis, Cryptorchidism, Optic disc coloboma, Vertebral s... ORPHA:251014
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Scoliosis, Hearing impairment ORPHA:500055
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Short neck, Secundum atrial septal defect, Microvesicular he... OMIM:300855
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Protruding ear, Scoliosis, Absent earlobe, Hearing impairment OMIM:619557
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ventricular septal defect, Kyphosis, Cryptorchidism, Protruding ear, Posterior... ORPHA:464311
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Protruding ear, Prominent coccy... OMIM:300966
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorc... OMIM:113620
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Kyphosis, Scoliosis, Low-set ears, Atrial septal defect, Cholelithiasis ORPHA:464738
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vert... ORPHA:955
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Low-set ears, Cryptorchidism OMIM:619244
Cono-Spondylar Dysplasia
Low-set ears, Kyphosis, Scoliosis, Short neck ORPHA:420794
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Cryptorchidism, Small pituitary gland, Scoliosis, Cognitive impairment, Atrial septal d... ORPHA:398069
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vert... ORPHA:958
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... OMIM:271700
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Situs inversus totalis, Kyphos... ORPHA:2461
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... OMIM:261740
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Marshall-Smith Syndrome
Thoracic scoliosis, Ventricular septal defect, Optic nerve hypoplasia, Kyphoscoliosis, Hearing im... OMIM:602535
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Pericardial effusion, Kyphosis, Cryptorchidism... ORPHA:536532
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Abnormal form of th... ORPHA:3042
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Abnormal pinna morphology, Abnormal helix morphology, Cardiomegaly ORPHA:158687
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Macrotia ORPHA:457359
Orofaciodigital Syndrome Iii
Kyphosis, Low-set ears OMIM:258850
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Ventricular septal defect, Abnormal pulmonary v... ORPHA:1507
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Dil... ORPHA:1606
Multiple Pterygium-Malignant Hyperthermia Syndrome
Posteriorly rotated ears, Kyphosis, Cryptorchidism, Scoliosis, Conductive hearing impairment ORPHA:2215
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column, Low-... ORPHA:77301
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Low-set ears, Scoliosis, Hearing impair... ORPHA:140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Hemivertebrae, ... ORPHA:500150
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia, Kyphosis, Cryptorchi... ORPHA:464306
Iniencephaly
Absent vertebra, Low-set ears, Hyperlordosis ORPHA:63259
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Poland Syndrome
Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral segm... ORPHA:2911
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Neo... ORPHA:744
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Kyphosis, Optic atrophy, Cognitive impairment, Low-set ears OMIM:617527
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical vertebrae, Hypoplas... OMIM:265000
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morpholog... ORPHA:97297
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Optic atrophy OMIM:619708
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Sponastrime Dysplasia
Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... ORPHA:93357
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Mitral valve prolapse OMIM:616914
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Kyphosis, Ventricular septal defect, Atresia of the external audit... ORPHA:1393
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Protruding ear, Hep... OMIM:619475
Somatomammotropinoma
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Spinal canal sten... ORPHA:314769
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Abnormal pinna morp... OMIM:194190
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Aganglionic megacolon, Short neck, ... ORPHA:818
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Kyphosis, Sensorineural hearing impairment, Optic atrophy, Hyp... ORPHA:521426
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Sensorineural hearing impairment, Hearing impairment OMIM:239000
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Abnormal earlobe morphology ORPHA:96191
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Attention deficit hyperactivity disorder, Posteriorly rotated ears, Scoliosis OMIM:618050
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Cryptorchidism OMIM:619718
Beckwith-Wiedemann Syndrome
Hepatomegaly, Otosclerosis, Cardiomegaly, Cryptorchidism, Splenomegaly, Exocrine pancreatic insuf... ORPHA:116
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastom... OMIM:130650
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Kyphosis, Optic atrophy, Cognitive impairment ORPHA:171629
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries ORPHA:137675
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... OMIM:208400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response... ORPHA:268261
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... ORPHA:51608
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Asymmetry of the ears, Kyphosis, Cryptorchidism, Cupped ear, EEG abnormality, Abn... ORPHA:3063
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Posteriorly rotated ears, Supernumerary nipple, Short neck, Prominent crus of h... OMIM:619194
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Sensorineural hearing impairment OMIM:609944
Mend Syndrome
Sacral dimple, Posteriorly rotated ears, Kyphosis, Cryptorchidism, Overfolded helix, Low-set ears... OMIM:300960
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis, Hepatomegaly ORPHA:394
Acromegaly
Elevated circulating growth hormone concentration, Kyphosis, Spinal canal stenosis, Depression, P... ORPHA:963
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Weaver Syndrome
Kyphosis, Cryptorchidism, Hydrocele testis, Scoliosis, Macrotia OMIM:277590
Cowden Syndrome
Hearing impairment, Enlarged polycystic ovaries, Kyphosis, Adenoma sebaceum, Scoliosis, Cognitive... ORPHA:201
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Optic atrophy, Protruding... OMIM:617140
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Attention defici... OMIM:176270
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Scol... ORPHA:2769
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Cdags Syndrome
Kyphosis, Sensorineural hearing impairment OMIM:603116
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Hepatomegaly, Optic disc pallor, Decreased nerve... ORPHA:191
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Macrotia... OMIM:256040
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mixed hearing impairment, Cervical kyphosis, Kyphosis, Vertebral... ORPHA:666
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, External ear malformation, Kyphosis, Increased circulating gon... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Short neck, External ear malformation, Kyphosis, Increased circulating gon... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, External ear malformation, Kyphosis, Increased circulating gon... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, External ear malformation, Kyphosis, Increased circulating gon... ORPHA:99226
17Q11 Microdeletion Syndrome
Short attention span, Kyphosis, Abnormal heart morphology, Memory impairment, Abnormality of the ... ORPHA:97685
Neurofibromatosis Type 1
Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Pheochromocytoma, Scoliosis, Attention de... ORPHA:636
Ramon Syndrome
Kyphosis, Optic disc pallor, Scoliosis, Hearing impairment OMIM:266270
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Kyphosis, Cryptorchidism, Protruding ear,... ORPHA:534
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Bicuspid aortic valve, Abnormal pinna morphology, Kyphoscoliosis, Aganglion... OMIM:309800
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Marfan Syndrome
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Attention deficit hyperac... ORPHA:558
Stickler Syndrome
Kyphosis, Sensorineural hearing impairment, Spinal canal stenosis, Abnormal form of the vertebral... ORPHA:828
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis, Hearing impairment OMIM:119600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hearing impairment ORPHA:85199
Yunis-Varon Syndrome
Ventricular septal defect, Abnormal pinna morphology, Cardiomegaly, Cryptorchidism, Cardiomyopath... ORPHA:3472
Lenz-Majewski Hyperostotic Dwarfism
Facial palsy, Kyphosis, Cryptorchidism, Scoliosis, Macrotia ORPHA:2658
Coffin-Siris Syndrome 1
Sacral dimple, Ventricular septal defect, Abnormal pinna morphology, Posteriorly rotated ears, Ky... OMIM:135900
Sotos Syndrome
Sacrococcygeal teratoma, Ventricular septal defect, Aganglionic megacolon, Kyphosis, Cryptorchidi... ORPHA:821
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis ORPHA:198
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... OMIM:182250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral colu... ORPHA:2273
Wrinkly Skin Syndrome
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Low-set ears, Atrial sep... OMIM:278250
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Orthostatic hypotension OMIM:304150
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Viss Syndrome
Ventricular septal defect, Posteriorly rotated ears, Coronary sinus enlargement, Kyphosis, Cupped... OMIM:619472
Coffin-Lowry Syndrome
Kyphosis, Sensorineural hearing impairment, Protruding ear, Lumbar kyphosis, Scoliosis, Hearing i... OMIM:303600
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Hypoplasia of the Leyd... ORPHA:64
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphosis, Cry... OMIM:216340
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism OMIM:309000
Primrose Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Sup... OMIM:259050

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 Arg2

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 Arg2.

No publications found that use IMPC mice or data for Arg2.

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MGI Allele Allele Type Produced
Arg2tm89576(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arg2em1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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