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Gene: Prss54 MGI:1918243

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Gene Summary

Name:
serine protease 54
Synonyms:
4931432M23Rik

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
decreased startle reflex Prss54em1(IMPC)Ccpcz HOM Early adult 3.91×10-05
kyphosis Prss54em1(IMPC)Ccpcz HOM Early adult 9.72×10-06
abnormal thymus morphology Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Prss54em1(IMPC)Ccpcz HOM Early adult 1.85×10-05
enlarged thymus Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Prss54em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 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

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Prss54 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 Prss54 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis OMIM:300718
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Kyphosis, Scoliosis ORPHA:101075
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Kyphosis, Scoliosis ORPHA:101078
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Dystonia OMIM:616756
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy, Dystonia OMIM:618237
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Gm1-Gangliosidosis, Type Iii
Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Winchester Syndrome
Kyphosis OMIM:277950
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom... OMIM:300280
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis ORPHA:2598
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Torsion dysto... OMIM:128100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypertrophic cardiomyopathy, Scoliosis, Hepatomegaly OMIM:618234
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Kyphosis, Scoliosis ORPHA:99014
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Limb dystonia ORPHA:319199
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... OMIM:252920
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st... OMIM:301900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Dystonia OMIM:611890
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Sialidosis Type 2
Splenomegaly, Kyphosis, Tremor, Hepatomegaly ORPHA:87876
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Dystonia OMIM:614898
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis OMIM:252605
Attrv122I Amyloidosis
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... ORPHA:85451
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Exaggerated startle response, Scoliosis OMIM:609541
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect ORPHA:352490
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Scoliosis, Dystonia OMIM:617435
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy ORPHA:79327
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:269920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis, Intention tremor ORPHA:48431
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Cardiomegaly, Short... OMIM:617022
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis OMIM:619040
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis ORPHA:75840
Spastic Paraplegia 46, Autosomal Recessive
Head tremor, Kyphosis, Scoliosis, Hand tremor OMIM:614409
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Car... OMIM:230000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Baralle-Macken Syndrome
Kyphosis, Dystonia OMIM:619255
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly OMIM:614702
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity OMIM:615084
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Anemia, Opisthotonus OMIM:184850
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Scoliosis, Subvalvular aortic stenosis ORPHA:3191
Stiff Person Spectrum Disorder
Exaggerated startle response, Lumbar hyperlordosis ORPHA:3198
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Scoliosis ORPHA:61
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Decreased testicular size ORPHA:3085
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis ORPHA:583
Sialidosis Type 1
Tremor, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:812
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis OMIM:607155
Rhizomelic Syndrome, Urbach Type
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... ORPHA:77259
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Paroxysmal dystonia OMIM:619909
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Atypical Rett Syndrome
Tremor, Kyphosis, Pill-rolling tremor, Scoliosis, Dystonia ORPHA:3095
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse ORPHA:137834
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Fucosidosis
Hepatomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Cardiomegaly ORPHA:349
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis ORPHA:64755
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Dilated cardiomyopathy, Spinal rigidity ORPHA:352447
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... ORPHA:2311
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Scoliosis ORPHA:320406
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicular atrophy OMIM:235200
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Atrioventricula... OMIM:619123
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Cho... OMIM:603903
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Hemivertebrae,... ORPHA:7
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck OMIM:613320
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis, Dystonia ORPHA:464282
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Dystonia, A... ORPHA:79330
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Gm1 Gangliosidosis
Generalized dystonia, Ventricular septal defect, Hyperlordosis, Tremor, Kyphosis, Splenomegaly, A... ORPHA:354
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
4Q21 Microdeletion Syndrome
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:238750
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Cryptorchidism OMIM:615433
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Trans... OMIM:253800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Dystonia ORPHA:500180
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Short neck, Platyspondyly, Hypertrophic cardiomyopathy OMIM:616897
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abnormal heart m... ORPHA:94065
Thanatophoric Dysplasia
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Hsd10 Disease, Infantile Type
Choreoathetosis, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly ORPHA:391428
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale OMIM:620327
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect OMIM:603387
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Kyphosis, Decreased testicular size, Cryptorchidism OMIM:300354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Torticollis, Scoliosis, Hyperlordosis OMIM:181405
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Decreased response to growth hormone stimulation test, Micr... ORPHA:324737
Emanuel Syndrome
Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidi... OMIM:609029
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Genitopalatocardiac Syndrome
Kyphosis, Abnormal cardiac septum morphology, Scoliosis, Cryptorchidism ORPHA:2075
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis, Hypertrophic cardiomy... ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis ORPHA:98855
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
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
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Kyphosis, Splenomegaly, Normochro... OMIM:615512
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Kyphosis, Scoliosis, Cryptorchidism OMIM:615381
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Thanatophoric Dysplasia Type 2
Atrial septal defect, Kyphosis, Platyspondyly ORPHA:93274
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, P... ORPHA:79255
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Cardiomegaly, Right ventricular hypertrophy, Hyperlordosis ORPHA:268
Pelizaeus-Merzbacher Disease
Choreoathetosis, Kyphosis, Scoliosis, Dystonia ORPHA:702
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:404440
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Dystonia OMIM:314580
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Cowden Syndrome 5
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Intention tremor, Goiter OMIM:615108
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:2789
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Kyphosis, Short neck ORPHA:3409
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect ORPHA:3378
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Tremor by anatomical site ORPHA:97349
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Tremor, Kyphosis, Scoliosis, Atrial septal defect OMIM:617061
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Scoliosis, Leukemia OMIM:619951
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Cowden Syndrome 6
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Intention tremor, Goiter OMIM:615109
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Atrial septal defect ORPHA:254346
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Schaaf-Yang Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:615547
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Torticollis, Scoliosis, Spinal rigidity OMIM:254090
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Adrenal hyperplasia, Macronodular adrenal hyperplasia OMIM:219080
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Short neck ORPHA:3082
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosplen... OMIM:607014
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Marden-Walker Syndrome
Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:248700
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism ORPHA:3121
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Jaberi-Elahi Syndrome
Tremor, Kyphosis, Choreoathetosis, Scoliosis, Dystonia OMIM:617988
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly OMIM:105210
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome... OMIM:309900
Koolen-De Vries Syndrome
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segmentation defect,... ORPHA:96169
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... ORPHA:261250
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Cowden Syndrome 1
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Intention tremor, Lymphop... OMIM:158350
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Thrombocytopenia OMIM:608013
Noonan Syndrome 14
Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis OMIM:617190
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... OMIM:130720
Alstrom Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Kyphosis, Dilated cardiomyop... OMIM:203800
Distal Triplication 15Q
Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, Atrial septal defect ORPHA:314588
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Rett Syndrome
Kyphosis, Scoliosis, Dystonia OMIM:312750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... OMIM:245600
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicular atrophy ORPHA:465508
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Scoliosis, Cryptorchidism ORPHA:90322
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Thanatophoric Dysplasia Type 1
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t... OMIM:252500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/beta synthesis... OMIM:301040
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Kyphosis, Scoliosis ORPHA:88628
Harrod Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2115
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly OMIM:618143
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis OMIM:618443
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Arm dystonia, Scoliosis ORPHA:88644
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect OMIM:617602
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... OMIM:610443
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
X-Linked Intellectual Disability, Cabezas Type
Short neck, Tremor, Kyphosis, Scoliosis, Decreased testicular size ORPHA:85293
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter OMIM:162300
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Pericardial effusion, Kyphosis, Tremor, Cardiomyopathy, Thrombocytosi... OMIM:212065
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis, Cryptorchidism ORPHA:364028
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Pituitary adenoma, Biconcave vertebral bodies OMIM:219090
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:616449
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:192
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Pycnodysostosis
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... ORPHA:763
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Complete atrioventricular canal defect, Scoliosis ORPHA:476126
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Kyphosis, ... ORPHA:79329
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Kyphosis, Scoliosis ORPHA:1969
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst OMIM:610475
Trisomy 20P
Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Kyphosis, Dystonia, Lymphopenia, Intention tremor OMIM:619708
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Exaggerated startle response, Dystonia ORPHA:521426
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal aortic ... ORPHA:581
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... OMIM:616894
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Mitral valve prolapse, Scoliosis, Neutropenia ORPHA:193
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Rett Syndrome, Congenital Variant
Kyphosis, Athetosis, Scoliosis, Dystonia OMIM:613454
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Chronic lymphatic leukemia, Hepatospl... ORPHA:51
Atelis Syndrome 2
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Thrombocytopenia OMIM:620185
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... ORPHA:251014
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly OMIM:608836
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia ORPHA:845
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Exaggerated startle response OMIM:617527
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Anemia ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Hepatosplenomegaly, Cardiomyopathy, Abn... ORPHA:576
Microphthalmia, Lenz Type
Cryptorchidism, Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoli... OMIM:300966
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Micro Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2510
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Short nec... OMIM:300855
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Pericardial effusion, Kyphosis, Cryptorchidism... ORPHA:536532
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:232300
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Cholelithiasis ORPHA:464738
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Cryptorchidism, Small pituitary gland, Scoliosis, Atrial septal defect, Decreased testi... ORPHA:398069
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Thrombocyt... OMIM:619005
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral col... ORPHA:1328
Autosomal Recessive Robinow Syndrome
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Kyphos... ORPHA:1507
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Cryptorchidism OMIM:619718
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Scoliosis, Left ventricular hypertrophy, Hypertrophic ... ORPHA:365
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2215
Marshall-Smith Syndrome
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... OMIM:602535
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular septal defect, Cryptor... ORPHA:438213
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia, Scoliosis, A... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Kyphosis, Supernumerary nipple, Scoliosis ORPHA:261349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Kyphosis, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis, Cryptorchidism ORPHA:500055
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column ORPHA:77301
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... ORPHA:363958
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abnormal form of the ve... ORPHA:280
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vert... ORPHA:955
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Kyphosis, Cryptorchidism, Scoliosis, Ao... ORPHA:464306
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Alexander Disease
Hyperlordosis, Tremor, Kyphosis, Short neck, Scoliosis ORPHA:58
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Kyphosis, Abnormal anatomic loca... ORPHA:2461
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical vertebrae, Hypoplas... OMIM:265000
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Mitral valve prolapse OMIM:616914
Poland Syndrome
Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, Vertebral segm... ORPHA:2911
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis ORPHA:401973
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... OMIM:208400
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Kyphosis, Cardiomyopathy, Scoliosis, Intention tremor ORPHA:90324
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... ORPHA:268261
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral bodies, Vertebral seg... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Ventricular septal defect, Cardiomegaly ORPHA:96191
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries ORPHA:137675
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Abn... ORPHA:744
Prader-Willi Syndrome
Kyphosis, Decreased response to growth hormone stimulation test, Scoliosis, Cryptorchidism OMIM:176270
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Somatomammotropinoma
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Spinal canal sten... ORPHA:314769
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Cerebrocostomandibular Syndrome
Kyphosis, Ventricular septal defect ORPHA:1393
Mend Syndrome
Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism OMIM:300960
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Biliary hyperplas... OMIM:619991
Classic Homocystinuria
Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral b... ORPHA:818
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Cdags Syndrome
Kyphosis OMIM:603116
1P36 Deletion Syndrome
Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abnormality of the spleen, Dilated car... ORPHA:1606
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... OMIM:617140
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Generalized dystonia ORPHA:171629
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Isometric tremor, Bicuspid aortic valve, Ventricular septal defect, Head ... OMIM:619475
Cockayne Syndrome B
Hepatomegaly, Tremor, Splenomegaly, Kyphosis, Cryptorchidism OMIM:133540
Cockayne Syndrome A
Hepatomegaly, Tremor, Splenomegaly, Kyphosis, Cryptorchidism OMIM:216400
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... ORPHA:666
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Acromegaly
Elevated circulating growth hormone concentration, Kyphosis, Spinal canal stenosis, Hypertrophic ... ORPHA:963
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Cowden Syndrome
Enlarged polycystic ovaries, Kyphosis, Adenoma sebaceum, Scoliosis, Goiter ORPHA:201
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thromboc... OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Cryptorch... OMIM:194190
Cockayne Syndrome
Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Scoliosis, Intention tremor, Action tremor ORPHA:191
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Hydrocele testis, Scolio... OMIM:619522
Marfan Syndrome
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Spondylolisthesis ORPHA:558
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Te... ORPHA:3472
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... ORPHA:828
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Kyphosis, Cryptorchidism, Anemia, Platyspondyly, Scoliosis, Thrombocytopenia ORPHA:534
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
17Q11 Microdeletion Syndrome
Kyphosis, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormality of the vertebral co... ORPHA:97685
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... OMIM:182250
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2658
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Hypoplasti... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Hypoplasti... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Hypoplasti... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Hypoplasti... ORPHA:99226
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Fused cerv... ORPHA:51608
Neurofibromatosis Type 1
Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Pheochromocytoma, Scoliosis, Leukemia ORPHA:636
Coffin-Siris Syndrome 1
Sacral dimple, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fallot, Scoliosi... OMIM:135900
Wrinkly Skin Syndrome
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation OMIM:278250
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Sotos Syndrome
Sacrococcygeal teratoma, Ventricular septal defect, Tremor, Cryptorchidism, Kyphosis, Abnormal he... ORPHA:821
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Hypereosinophilia, Mitral valve ... OMIM:619472
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Branchiooculofacial Syndrome
Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis OMIM:113620
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphosis, Cry... OMIM:216340
Primrose Syndrome
Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Irregular vertebral endplates, Posterior scal... OMIM:259050
Alström Syndrome
Hepatomegaly, Thoracic scoliosis, Decreased response to growth hormone stimulation test, Testicul... ORPHA:64

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 Prss54

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 Prss54.

No publications found that use IMPC mice or data for Prss54.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Prss54tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prss54em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Prss54tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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