banner
Genes Phenotypes Help, News, Blog

Gene: Prss54 MGI:1918243

Log in to follow

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
abnormal spine curvature Prss54em1(IMPC)Ccpcz HOM Early adult 1.85×10-05
abnormal skin morphology Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
decreased CD4-positive NK T cell number Prss54em1(IMPC)Ccpcz HOM Early adult 1.39×10-05
decreased NK T cell number Prss54em1(IMPC)Ccpcz HOM Early adult 8.72×10-06
decreased memory-marker CD4-positive NK T cell number Prss54em1(IMPC)Ccpcz HOM Early adult 1.45×10-05
kyphosis Prss54em1(IMPC)Ccpcz HOM Early adult 9.72×10-06
abnormal thymus morphology Prss54em1(IMPC)Ccpcz HOM Early adult 0.00
decreased startle reflex Prss54em1(IMPC)Ccpcz HOM Early adult 1.38×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Hind Leg and Hip

42 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

View images
X-ray

XRay Images Skull Lateral Orientation

21 Images

View images
X-ray

XRay Images Forepaw

21 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

42 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

21 Images

View images

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
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Deleted in azoospermia
Azoospermia OMIM:400003
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... ORPHA:1354
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis ORPHA:796
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Kyphoscoliosis OMIM:300886
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Splenomegaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Dystonia, Scolio... OMIM:230650
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis, Tremor ORPHA:101075
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Congenital Myopathy 8
Cardiomegaly, Scoliosis OMIM:618654
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis, Tremor ORPHA:101078
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Scoliosis, Kyphosis ORPHA:2598
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Dystonia, Kyphosis OMIM:618237
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:858
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Kyphoscoliosis, Cardiomegal... OMIM:300280
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Winchester Syndrome
Kyphosis OMIM:277950
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Kyphosis, Tremor ORPHA:87876
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vertebral changes, Scoliosis, Ky... OMIM:301900
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal... OMIM:230500
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... OMIM:252920
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Short neck, Dystonia, Scoliosis, Kyphosis OMIM:611890
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Cryptorchidism OMIM:618393
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Abnormal testis morphology ORPHA:1548
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Scoliosis, Kyphosis, Hypertrophic cardiomyopathy OMIM:618234
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... OMIM:256550
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Autosomal Recessive Spastic Paraplegia Type 53
Limb dystonia, Kyphosis ORPHA:319199
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Tremor, Hyperlordosis, Torticollis, Writer's cramp, Torsion ... OMIM:128100
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis, Tremor ORPHA:99014
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T... OMIM:169400
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Scoliosis, Kyphosis ORPHA:352490
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Kyphosis ORPHA:1875
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Overriding a... OMIM:617022
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Cuboid-shaped vertebral bodies, Cardiome... OMIM:239850
Fucosidosis
Anterior beaking of thoracic vertebrae, Cervical platyspondyly, Lumbar hyperlordosis, Splenomegal... OMIM:230000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis, Cryptorchidism ORPHA:178148
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Short neck, Ap... OMIM:618223
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Kyphosis OMIM:614898
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Kyphoscoliosis, Cardiomegaly, Abnormal atrioventric... ORPHA:324410
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Lopes-Maciel-Rodan Syndrome
Dystonia, Scoliosis, Kyphosis, Tremor OMIM:617435
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis ORPHA:3137
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Alg1-Cdg
Abnormal heart morphology, Scoliosis, Kyphosis, Cardiomyopathy ORPHA:79327
Stiff-Person Syndrome
Anemia, Opisthotonus, Lumbar hyperlordosis, Exaggerated startle response OMIM:184850
Ullrich Congenital Muscular Dystrophy
Short neck, Torticollis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Alpha-Mannosidosis
Splenomegaly, Short neck, Hepatomegaly, Scoliosis, Kyphosis ORPHA:61
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Scoliosis, Kyphosis, Intention tremor ORPHA:48431
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae ORPHA:2522
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Cryptorchidism, Kyphoscoliosis OMIM:618484
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis, Exaggerated startle response OMIM:609541
Spastic Paraplegia 46, Autosomal Recessive
Head tremor, Scoliosis, Kyphosis, Hand tremor OMIM:614409
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis OMIM:619040
Sialidosis Type 1
Abnormal form of the vertebral bodies, Splenomegaly, Tremor, Scoliosis, Kyphosis ORPHA:812
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Pericardial effusion OMIM:614702
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Cryptorchidism, Vertebral segmentation defect ORPHA:2617
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Hepatomegaly,... OMIM:253000
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperlordosis, Kyphosis ORPHA:3085
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Mcdonough Syndrome
Scoliosis, Kyphosis, Cryptorchidism ORPHA:2471
Baralle-Macken Syndrome
Dystonia, Kyphosis OMIM:619255
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... ORPHA:2635
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Weismann-Netter Syndrome
Kyphosis, Anemia, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Mogs-Cdg
Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly, Left ventricular hypertrophy, Atrial septal... ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Hemochromatosis, Type 1
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Testicular atrophy OMIM:235200
Subaortic Stenosis-Short Stature Syndrome
Short neck, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Scoliosis, Kyphosis ORPHA:3191
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... OMIM:300942
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis, Cryptorchidism OMIM:619797
Congenital Disorder Of Glycosylation, Type Il
Splenomegaly, Short neck, Atrial septal defect, Hepatomegaly, Pericardial effusion, Kyphosis OMIM:608776
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Asplenia, Kyphosis, Pul... OMIM:619123
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre... ORPHA:508533
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmonic stenosis OMIM:609008
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Srd5A3-Cdg
Microcytic anemia, Abnormal sacrum morphology, Kyphosis, Decreased response to growth hormone sti... ORPHA:324737
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Cardiomyopathy, Generalized dystonia, Abnor... ORPHA:354
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse ORPHA:137834
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic stenosis ORPHA:3098
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Dystonia, Scoliosis, Kyphosis ORPHA:3095
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Paroxysmal dystonia, Ventricular septal defect OMIM:619909
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Scoliosis, Kyphosis ORPHA:464282
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... ORPHA:392
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Fucosidosis
Anterior beaking of lumbar vertebrae, Hepatomegaly, Cardiomegaly, Kyphosis ORPHA:349
Stiff Person Spectrum Disorder
Lumbar hyperlordosis, Exaggerated startle response ORPHA:3198
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short neck, Severe platyspondyly, Dysplastic sacrum OMIM:613320
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Cryptorchidism, Vertebral segmentation defect, Short neck,... ORPHA:2311
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Ruvalcaba Syndrome
Scoliosis, Kyphosis, Cryptorchidism OMIM:180870
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Kyphosis, Cryptorchidism OMIM:615433
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response OMIM:268800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Clark-Baraitser syndrome
Macroorchidism, Scoliosis, Kyphosis OMIM:300602
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Short neck OMIM:616897
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Tremor ORPHA:238750
Cowden Syndrome 1
Goiter, Lymphopenia, Intention tremor, Ovarian cyst, Ovarian carcinoma, Hydrocele testis, Scolios... OMIM:158350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidism, Mitral valve prolapse, Short neck, Kyph... OMIM:619745
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis, Supernumerary nipple ORPHA:64755
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Supernumerary nipple, Cryptorchidism, Leukemia, Scoliosis, Kyphosis OMIM:619951
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Decreased testicular size, Tremor, Kyphosis, Cryptorchidism OMIM:300354
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Choreoathetosis ORPHA:391428
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Abnormal heart morphology, Cryptorchidism,... ORPHA:94065
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Scoliosis, Exaggerated startle response ORPHA:320406
Thanatophoric Dysplasia
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Cantú Syndrome
Platyspondyly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cuboid-shaped verteb... ORPHA:1517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defec... OMIM:253800
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect ORPHA:261190
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Tremor, Dystonia, Hemolytic a... OMIM:615512
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Cryptorchidism, Scoliosis,... ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Emanuel Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Truncus arteriosus, Pulmonic st... OMIM:609029
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response OMIM:620327
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Kyphosis ORPHA:500180
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Gm1 Gangliosidosis Type 1
Platyspondyly, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Hypoplasti... ORPHA:79255
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Hyperlordosis,... ORPHA:582
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:536516
Mucolipidosis Iii Gamma
Aortic valve stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:252605
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Scoliosis, Kyphosis OMIM:607015
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Scoliosis, Kyphosis ORPHA:404440
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Beaking of vertebral... OMIM:108300
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hypertrophic cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal ri... ORPHA:98863
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Hyperlordosis, Scoliosis, Back pai... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Hyperlordosis, Scoliosis, Back pai... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98855
Thanatophoric Dysplasia Type 2
Platyspondyly, Atrial septal defect, Kyphosis ORPHA:93274
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Kyphosis, Thoracic scoliosis OMIM:603387
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Scoliosis, Kyphosis, Cryptorchidism ORPHA:2075
Wieacker-Wolff Syndrome
Short neck, Hyperlordosis, Dystonia, Scoliosis, Kyphosis OMIM:314580
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Short neck, Hepatomegaly, Kyph... OMIM:309900
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis OMIM:609128
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def... ORPHA:261250
Trisomy 13
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis ORPHA:3378
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Opisthotonus, Thrombocytopenia, Anemia OMIM:608013
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis, Torticollis OMIM:181405
Hurler Syndrome
Hypoplasia of the odontoid process, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosi... OMIM:607014
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Hyperlordosis, Hepatome... OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis OMIM:617061
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Intention tremor, Head titubation, Dystonia, Kyphosis OMIM:619708
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
19P13.12 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Scoliosis, Kyphosis ORPHA:254346
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Cryptorchidism ORPHA:3409
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Pelizaeus-Merzbacher Disease
Dystonia, Scoliosis, Kyphosis, Choreoathetosis ORPHA:702
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Cryptorchidism, Ventricular septal defect, Short neck, Hyp... ORPHA:2789
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis OMIM:108145
Schaaf-Yang Syndrome
Scoliosis, Kyphosis, Cryptorchidism OMIM:615547
Cowden Syndrome 5
Goiter, Intention tremor, Ovarian cyst, Hydrocele testis, Scoliosis, Kyphosis OMIM:615108
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Postencephalitic Parkinsonism
Oculogyric crisis, Kyphosis, Resting tremor, Camptocormia, Tremor by anatomical site ORPHA:97349
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Hyperlordosis, Spinal rigidity ORPHA:268
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis, Cryptorchidism ORPHA:3082
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Marden-Walker Syndrome
Cryptorchidism, Short neck, Dextrocardia, Scoliosis, Kyphosis OMIM:248700
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Cryptorchidism ORPHA:3121
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Hypoplastic nipples, Impaired lymphocyte tr... ORPHA:79329
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Beaking of vertebral bodies T12-L3,... OMIM:252500
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Testicular atrophy ORPHA:465508
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Scoliosis, Kyphosis, Ventricular septal defect OMIM:620511
Cowden Syndrome 6
Goiter, Intention tremor, Ovarian cyst, Hydrocele testis, Scoliosis, Kyphosis OMIM:615109
Flynn-Aird Syndrome
Scoliosis, Kyphosis ORPHA:2047
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Tremor, Intention tremor, Cardiomyopathy OMIM:105210
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Ullrich Congenital Muscular Dystrophy 1A
Scoliosis, Kyphosis, Torticollis, Spinal rigidity OMIM:254090
Mosaic Trisomy 20
Spinal canal stenosis, Cryptorchidism, Abnormal mitral valve morphology, Vertebral segmentation d... ORPHA:1724
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Kyphoscoliosis, Ventricular septal defect, Perimembranous ventric... OMIM:301040
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ... ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Koolen-De Vries Syndrome
Cryptorchidism, Vertebral segmentation defect, Bicuspid aortic valve, Abnormal cardiac septum mor... ORPHA:96169
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Jaberi-Elahi Syndrome
Tremor, Dystonia, Scoliosis, Kyphosis, Choreoathetosis OMIM:617988
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis OMIM:608800
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Platyspondyly, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... OMIM:245600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Typical Nemaline Myopathy
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Lateral Meningocele Syndrome
Cryptorchidism, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic valve, Sho... OMIM:130720
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Atrial septal defect, Scoliosis, Kyphosis OMIM:617190
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyperplasia OMIM:219080
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Intention tremor, Tremor, Thrombocytosis, Hepatomegaly, Pericardial effusion, Kyp... OMIM:212065
Cockayne Syndrome Type 2
Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism ORPHA:90322
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Hydrocele testis, Scoliosis, Kyphosis ORPHA:314588
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Scoliosis, Cryptorchidism OMIM:618143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Cohen Syndrome
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Neutropenia, Scoliosis, Kyphosis ORPHA:193
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Hepatomegaly, Scoliosis, Kyphosis OMIM:618443
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Pycnodysostosis
Spondylolysis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Spondyl... ORPHA:763
Thanatophoric Dysplasia Type 1
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Koolen-De Vries Syndrome
Spondylolisthesis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Pulmonic ste... OMIM:610443
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Harrod Syndrome
Scoliosis, Kyphosis, Cryptorchidism ORPHA:2115
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Cryptorchidism, Kyphoscoliosis, Bicuspid aortic valve, Pancreatic cyst... OMIM:301111
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Mucolipidosis Iii Alpha/Beta
Cardiomyopathy, Spondylolisthesis, Hepatomegaly, Scoliosis, Kyphosis OMIM:252600
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Kyphosis OMIM:301041
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Marinesco-Sjogren Syndrome
Scoliosis, Kyphosis OMIM:248800
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Rett Syndrome
Dystonia, Scoliosis, Kyphosis OMIM:312750
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Kyphosis, Cryptorchidism ORPHA:364028
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Scoliosis, Kyphosis OMIM:617602
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mucopolysaccharidosis Type 3
Abnormal form of the vertebral bodies, Splenomegaly, Abnormal mitral valve morphology, Abnormal a... ORPHA:581
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Scoliosis, Kyphosis ORPHA:88628
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:85293
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Partial atrioventricular canal defect, Thrombocytopenia, Exaggerated startle response OMIM:620423
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Atelis Syndrome 2
Pulmonic stenosis, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Kyphosis, Sacral dimple OMIM:620185
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, ... OMIM:620376
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal aortic valve... ORPHA:192
Autosomal Recessive Ataxia, Beauce Type
Arm dystonia, Scoliosis, Kyphosis ORPHA:88644
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Tremor, Ch... ORPHA:51
Spondyloenchondrodysplasia
Platyspondyly, Granuloma, Decreased response to growth hormone stimulation test, Pancytopenia, Au... ORPHA:1855
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect OMIM:616449
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:620351
Camurati-Engelmann Disease
Abnormality of the vertebral column, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Hepat... ORPHA:1328
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis, Mitral valve prolapse OMIM:177850
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Cryptorchidism, Vertebral segmentation defe... ORPHA:261318
Abetalipoproteinemia
Acanthocytosis, Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Hepatomegaly, Anemia ORPHA:14
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Scoliosis, Kyphosis, Complete atrioventricular canal defect ORPHA:476126
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Cryptorchidism, Thrombocytopenia, Hepatomegaly, Scoliosis, Decreased hemoglobin concent... OMIM:619005
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... OMIM:300855
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Kyphosis, Exaggerated startle response ORPHA:521426
Mucolipidosis Type Ii
Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitr... ORPHA:576
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Pituitary adenoma, Kyphosis, Biconcave vertebral bodies OMIM:219090
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Parathyroid hyperplasia, Hyperlordosis, Nodular goiter, Scoliosis, Kyphosis OMIM:162300
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Short n... OMIM:616894
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Alkaptonuria
Aortic valve calcification, Intervertebral disk degeneration, Low back pain, Mitral valve calcifi... OMIM:203500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Brain abscess, Kyphosis OMIM:616482
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Vertebral segmentation defect, Ventricular septal defect, Short neck, Atrial sept... ORPHA:251014
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy OMIM:608836
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst OMIM:610475
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Exaggerated startle response OMIM:617527
Aspartylglucosaminuria