Gene Summary

Name:
sex comb on midleg homolog 1
Synonyms:
Scml3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged cecum Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
abnormal auditory brainstem response Scmh1tm1e.1(EUCOMM)Hmgu HOM   Early adult 0.00233
abnormal liver morphology Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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 Dorso Ventral

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

Human diseases caused by Scmh1 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 Scmh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism, Delayed sk... OMIM:229070
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Immunodeficiency 40
Lymphopenia OMIM:616433
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Abnormality of the ribs, Short ... ORPHA:2578
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormal hip bone morpho... ORPHA:2522
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Maternal Uniparental Disomy Of Chromosome X
Scoliosis, Ambiguous genitalia, Rocker bottom foot, Cubitus valgus, Azoospermia, Shield chest, Ca... ORPHA:261519
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Ring Chromosome 21 Syndrome
Scoliosis, Infertility, Azoospermia, Amenorrhea, Abnormal thorax morphology, Fused thoracic verte... ORPHA:1445
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brachydactyly, Fused cervical ... ORPHA:1436
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Rib fusion, Synostosis of carp... OMIM:157800
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Fused cervical vertebrae OMIM:214300
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism, Abnormality of the cer... OMIM:307500
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Coxa valga, Aplasia/H... ORPHA:3320
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Scrotal hypoplasia, Decreased fertility, Hemivertebrae, Hy... ORPHA:2234
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin... OMIM:108720
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Abnormal rib cage m... OMIM:312300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormality of the vertebral column, Sprengel anomaly, Hypoplasia of the uterus, Bic... OMIM:601076
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Short neck ORPHA:2183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal... OMIM:113000
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Short thorax, Fl... ORPHA:485
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
49,Xyyyy Syndrome
Scoliosis, Large carpal bones, Cubitus valgus, Male hypogonadism, Increased circulating gonadotro... ORPHA:99330
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Pectus carinatum, Osteoporotic me... OMIM:609052
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Scapular winging, Anteriorly placed odontoid pro... OMIM:305620
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Familial Male-Limited Precocious Puberty
Accelerated skeletal maturation, Long penis, Oligospermia, Macroorchidism, Male infertility, Prec... ORPHA:3000
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Abnormal morphology of female internal genitalia, Hyperlordosis, Short thorax, Posteri... ORPHA:1797
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion... OMIM:118100
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Hemochromatosis, Type 2A
Infertility, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism, Arthritis OMIM:602390
Kbg Syndrome
Cryptorchidism, Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Cerv... OMIM:148050
48,Xyyy Syndrome
Dislocated radial head, Male hypogonadism, Azoospermia, Radioulnar synostosis, Short neck ORPHA:99329
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
48,Xxyy Syndrome
Scoliosis, Cryptorchidism, Infertility, Hip dysplasia, Azoospermia, Radioulnar synostosis, Elbow ... ORPHA:10
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Acetabular dysplas... OMIM:616549
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Reduced sperm mot... OMIM:602271
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive ... ORPHA:432
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Kbg Syndrome
Scoliosis, Cryptorchidism, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fonta... ORPHA:2332
Mosaic Trisomy 20
Scoliosis, Cryptorchidism, Narrow chest, Kyphosis, Down-sloping shoulders, Vertebral segmentation... ORPHA:1724
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Hip dysplasia, Fused cervical vertebrae ORPHA:530983
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad thumb, Short distal phalanx of finger, Proximal/middle symphalangism of 5th... OMIM:184460
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Pri... OMIM:612885
Gorlin Syndrome
Scoliosis, Cryptorchidism, Hemivertebrae, Vertebral fusion, Brachydactyly, Hypogonadotropic hypog... ORPHA:377
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Absent external gen... OMIM:271520
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Scoliosis, Narrow chest, Rib fusion, Absent external genitalia,... ORPHA:94095
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... ORPHA:1826
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone... ORPHA:628
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Ambiguous genitalia, Platyspondyly, Narrow chest, Abnormality of ep... ORPHA:93267
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
48,Xxxy Syndrome
Scoliosis, Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Elbow dislocation, Ab... ORPHA:96263
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Lateral clavicle hook, ... OMIM:274000
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Cryptorchidism, Rib fusion, Anterior pituitary hypoplasia, Hemivertebrae, V... OMIM:206900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxi... OMIM:615633
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Short femur, Long penis, Radioulnar synostosis, Sprenge... ORPHA:1988
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Aarskog-Scott Syndrome
Cryptorchidism, Camptodactyly of finger, Finger syndactyly, Genu recurvatum, Joint hyperflexibili... ORPHA:915
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Flaring of rib cage, Osteopenia, Fused cervical vertebrae... OMIM:612852
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, A... ORPHA:1354
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, Gastroesophageal reflux, Absent brainstem auditory responses, Sensorineural hearing im... OMIM:617519
49,Xxxxy Syndrome
Scoliosis, Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Elbow dislocation, Ab... ORPHA:96264
Mosaic Trisomy 14
Cryptorchidism, Camptodactyly of finger, Narrow chest, Hypoplasia of penis, Abnormality of the ri... ORPHA:1703
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic p... ORPHA:93351
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Abnormality of the scrotum, Pectus carinatum, Supernu... ORPHA:64755
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentation defect OMIM:618845
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular ep... OMIM:608728
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormal form of the vertebral bodies, Elbow dislocation, ... ORPHA:2916
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Short phalanx of finger, Hypergonadotropic hypogonadism, Small hand, Broad finger, D... OMIM:300845
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Hemochromatosis, Type 1
Osteoporosis, Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadi... OMIM:235200
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded rib... OMIM:259440
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Narrow chest, Broad toe, Pectus ca... OMIM:263540
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Caudal Regression Sequence
Scoliosis, Cryptorchidism, Ambiguous genitalia, Abnormal iliac wing morphology, Joint stiffness, ... ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Short metatarsal, Upper ... OMIM:271650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
3M Syndrome
Scoliosis, Congenital hip dislocation, Enlarged thorax, Abnormality of the elbow, Horizontal ribs... ORPHA:2616
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Epispadias, Ma... ORPHA:1772
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Short neck, Fused cerv... OMIM:609053
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm ORPHA:168555
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of t... ORPHA:2232
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carpal bones, Bow... ORPHA:90650
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Hepatomegal... ORPHA:2198
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-s... OMIM:187760
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Spina bifida occulta, Fused cervical vertebrae, Butterfly ver... OMIM:619227
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Short thorax, Campto... ORPHA:2311
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnorm... ORPHA:3082
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Joint hyperflexibility, Decreased calvarial ossification, Re... ORPHA:2772
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Hypoplasia of the vagina, Vertebral segm... ORPHA:3109
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Joint laxity, Metap... OMIM:618395
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... ORPHA:280679
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Apert Syndrome
Cryptorchidism, Humeroradial synostosis, Postaxial hand polydactyly, Preaxial hand polydactyly, S... OMIM:101200
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Short thora... ORPHA:239
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Joint hypermobility, Bif... ORPHA:456328
Prune Belly Syndrome
Scoliosis, Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Congenital hip di... ORPHA:2970
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, H... ORPHA:251066
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Clinodactyly, Hip dislocation, Short neck, Short 5th ... OMIM:615583
Frontometaphyseal Dysplasia 2
Scoliosis, Cryptorchidism, Dislocated radial head, Short metatarsal, Congenital hip dislocation, ... OMIM:617137
Lateral Meningocele Syndrome
Scoliosis, Cryptorchidism, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Kyphos... OMIM:130720
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Hypospadias, Ambiguous genitalia, Abnormal clavicle morphology ORPHA:276422
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, C... OMIM:244600
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Short neck, Hemivertebrae ORPHA:1780
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Genu valgum, Delayed pubic bone os... OMIM:184250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture... ORPHA:1145
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Anterior hypopituitarism, Abnormality of the ribs, Central diabete... ORPHA:280195
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, 2-3 toe syndactyly, Lumbar hyperlordosis, V... ORPHA:313892
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:308700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Apert Syndrome
Toe syndactyly, Ovarian neoplasm, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb... ORPHA:87
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Osteopenia, Small hand, Short foot, Abnormality of the ... OMIM:611209
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Congenital adrenal ... ORPHA:90791
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Cryptorchidism, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Clitoral... OMIM:268310
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Irregular ossification of hand bones, Polydactyly, Abnormal ster... OMIM:109400
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elbow dislocation, Split hand... OMIM:171480
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Duane-Radial Ray Syndrome
Scoliosis, Hypoplasia of the radius, Aplasia of metacarpal bones, Preaxial polydactyly, Hypoplasi... OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Metaphys... OMIM:269250
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Postaxial hand polydactyly, Toe syndactyly, Narrow ch... ORPHA:474
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Un... OMIM:173800
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Arnold-Chiari Malformation Type I
Scoliosis, Anteriorly placed odontoid process, Cervical C2/C3 vertebral fusion, Stiff neck, Fused... ORPHA:268882
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormality of the ribs, Pectus carinatum, Abnormal hip bone morphology, Limitatio... ORPHA:3068
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Hemivertebrae, Cervical ribs, Unilateral breast hypoplasia OMIM:604919
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Broad thumb, Radioulnar synostosis, Finger syndactyly, S... ORPHA:392
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Short n... OMIM:300232
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hy... OMIM:612447
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Cryptorchidism, Ambiguous genitalia, Toe syndactyly, Bifid scrotum, Finger syndactyly,... ORPHA:1300
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Hyperextensible hand joints, Pectus excavatum, Down-sloping shoulders, Camptodact... OMIM:227330
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Slender lon... ORPHA:1486
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Joint hyperflexibility, Kyphosis, Pectus excavatum, Vertebral fusion, ... ORPHA:96169
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Genu valgum, Abnormality of epiphysis morp... ORPHA:582
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... OMIM:615220
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Hand polydactyly, Syndactyly, Clinod... OMIM:210900
Otopalatodigital Syndrome Type 2
Scoliosis, Short hallux, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Flared iliac w... ORPHA:90652
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syn... ORPHA:958
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Short neck, Vertebral segmentation defect, Hyper... OMIM:272460
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Poland Syndrome
Scoliosis, Cryptorchidism, Absent hand, Abnormal sternum morphology, Split hand, Hemivertebrae, U... ORPHA:2911
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel a... ORPHA:2097
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Osteoporosis, Decreased female libido, Osteopenia, Anterior hypopituita... ORPHA:91348
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Genu valgum, Constricted iliac wing, ... OMIM:253000
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin clavicles, Post... OMIM:228520
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebr... OMIM:224690
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Aromatase Deficiency
Osteoporosis, Cryptorchidism, Genu valgum, Hypergonadotropic hypogonadism, Bone pain, Primary ame... ORPHA:91
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Craniosynostosis, Tarsal synostosis, Narrow chest, Camptodactyly, Abno... ORPHA:95699
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow il... OMIM:250420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Wormian bones, Short femur, Thoracic hypoplasia, Beaded ribs, Flexion contracture,... OMIM:616897
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Thoracic hypo... OMIM:617895
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the urethra, Abnormality of the r... ORPHA:2145
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Abnormal hand bone ossificatio... OMIM:200600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Sandal gap, Ab... ORPHA:2180
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Ambiguous genitalia, Lateral clavicle hook, Femoral bowing, Absent tibia, Thoracic hyp... OMIM:613091
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Genu valgum, Constricted iliac wing, ... OMIM:253010
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Preaxial h... ORPHA:887
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Mosaic Trisomy 8
Scoliosis, Cryptorchidism, Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow ch... ORPHA:96061
White Forelock With Malformations
Finger syndactyly, Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of... ORPHA:2475
Renpenning Syndrome
Abnormal thumb morphology, Pectus excavatum, Sprengel anomaly, Joint stiffness, Hypospadias, Abno... ORPHA:3242
Ellis-Van Creveld Syndrome
Cryptorchidism, Genu valgum, Postaxial hand polydactyly, Narrow chest, Pectus carinatum, Acetabul... OMIM:225500
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Beaded ribs, Broad long bones, Absent ossification of calvaria, Rec... OMIM:166210
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Joint hyperflexibility, Bowing of the long ... ORPHA:2484
Diphallia
Scoliosis, Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Hemivertebrae, Ectopic scrot... ORPHA:227
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, T... OMIM:300863
H Syndrome
Osteolysis, Azoospermia, Amenorrhea, Camptodactyly, Delayed skeletal maturation, Recurrent fractu... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal morphology of female internal genitalia, Abnormality of the knee, Abnormal fo... ORPHA:1834
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Azoospermia ORPHA:1446
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal enchondral ossification, Short foot, Abnormality of the ribs... ORPHA:93298
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hyperflexibility, Hemivertebrae, Abnormality of the ... ORPHA:2759
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Narrow chest, Increased susceptibility to fractures, ... OMIM:224300
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Abnormal form of the vertebral bodie... ORPHA:2876
Familial Glucocorticoid Deficiency
Cryptorchidism, Azoospermia, Leydig cell neoplasia, Testicular adrenal rest tumor, Precocious pub... ORPHA:361
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Decreased ca... OMIM:259420
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Short ribs, ... ORPHA:2519
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Penile hypospadias, Generalized bone demineralization, Abnormal bone ossific... ORPHA:73230
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Mohr-Tranebjaerg Syndrome
Dysphagia, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochle... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Split hand, Scrotal hypoplasia, Hemivertebrae, Phocomelia, ... OMIM:276820
Classic Galactosemia
Osteoporosis, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea,... ORPHA:79239
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Camptodactyly of finger, Azoospermia, Flexion contracture of finger, Hypergon... OMIM:602782
Trisomy 13
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Postaxial hand polyd... ORPHA:3378
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short clavicles, Pr... OMIM:610319
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Joint hypermobility, Kyphosis, Pectus excavatum, Sacral... OMIM:610443
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Myhre Syndrome
Cryptorchidism, Platyspondyly, Broad ribs, Overlapping toe, Camptodactyly, 2-3 toe syndactyly, Hy... OMIM:139210
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Female external genitalia in individual with 46,XY karyotype, Male infertility... ORPHA:90793
Acrorenal-Mandibular Syndrome
Narrow chest, Split hand, Hemivertebrae, Bicornuate uterus, Elbow flexion contracture, Hypoplasia... OMIM:200980
Myhre Syndrome
Cryptorchidism, Platyspondyly, Large iliac wing, Abnormality of epiphysis morphology, Abnormal pe... ORPHA:2588
Achondrogenesis, Type Ii
Broad long bones, Horizontal ribs, Absent vertebral body mineralization, Short ribs, Hypoplastic ... OMIM:200610
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Sex reversal, Thoracic hypopl... OMIM:114290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Fanconi Anemia
Scoliosis, Cryptorchidism, Bicornuate uterus, Triphalangeal thumb, Abnormal preputium morphology,... ORPHA:84
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Scrot... ORPHA:2990
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow d... ORPHA:3258
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, F... ORPHA:444077
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadia... ORPHA:168558
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Alagille Syndrome
Cryptorchidism, Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Short distal phala... ORPHA:52
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Wormian bones, Radial bowing, Joint laxity, Kyphosis, Recurrent fractur... OMIM:610915
Robinow Syndrome
Scoliosis, Cryptorchidism, Webbed penis, Radioulnar dislocation, Scrotal hypoplasia, Rib fusion, ... ORPHA:97360
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Joint hyperflexibility, Kyphosis... ORPHA:2050
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, Bo... ORPHA:249
Aicardi Syndrome
Scoliosis, Hip dysplasia, Bifid ribs, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs... ORPHA:50
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Reduced bone mineral density, Abnorma... ORPHA:1488
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadia... ORPHA:289548
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Aplasia/Hypoplasia involving the pelvis, Vaginal atresia, Abnormally ossified ver... ORPHA:3301
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnor... OMIM:308205
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed skeletal maturation ORPHA:90646
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Simpson-Golabi-Behmel Syndrome
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Broad thumb, Congenital hip dislocati... ORPHA:373
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Proximal placement of thumb, S... OMIM:304050
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Beaded ribs, Osteopenia, Vertebral compression fracture OMIM:616229
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, As... OMIM:604922
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Narrow chest, Abnormality of the metacarpal bones, Short clavicles, Spi... ORPHA:1452
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Cryptorchidism, Abnormality of the Leydig cells, Pectus carinatum, Kyphosis, Pectus... ORPHA:3063
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Bone pain, Generalized osteosclerosis, Rachitic rosary, Bowi... ORPHA:89936
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Cryptorchidism, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger sy... ORPHA:2215
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Short metatarsal, Breast hypoplasia, Oligospermia, Hypoplastic pelvis, Cone-s... OMIM:614813
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Limited shou... OMIM:134780
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Platyspondyly, Lateral clavicle hook, Postaxial polysyndactyly of foot, Post... OMIM:263520
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared ... OMIM:609945
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Bowing of the long bones, Metap... ORPHA:85167
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Narrow chest, Abnormality of the metaphysis, Abnormal... ORPHA:175
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal pha... ORPHA:1647
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Increased bone m... ORPHA:800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Trisomy 1Q
Cryptorchidism, Short thorax, Ambiguous genitalia, Preaxial hand polydactyly, Camptodactyly of fi... ORPHA:261344
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Hypo... ORPHA:51608
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Split hand, Metatarsus adductus, Short thumb, Precocious puberty, Hip ... OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, ... OMIM:151050
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Cryptorchidism, Lateral clavicle hook, C1-C2 vertebral abnormality, Craniosynostosis, ... OMIM:182212
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Short palm, Thin ribs, Slender long bone, Small hand,... OMIM:244460
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Joint laxity, Generalized joint ... OMIM:613848
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Accelerated skeletal maturation, Osteoporosis, Broad ribs, Narrow ch... ORPHA:1517
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Increased bone mineral density, Abnormal diaphysis morphology, Short t... ORPHA:85184
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Patellar aplasia, Short ... OMIM:617604
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Brachydactyly, Delayed skeletal maturation, Abnormality of epiphysis mor... ORPHA:2643
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Narrow chest, Flared iliac wing, Metaphyseal irregularity, Iliac crest s... OMIM:250220
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Prolonged brainstem auditory evoked potentials, EEG with persistent abno... ORPHA:206443
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Metaphyseal irregularity, Short... OMIM:245190
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Mccune-Albright Syndrome
Scoliosis, Ovarian cyst, Accelerated skeletal maturation, Hyperplasia of the Leydig cells, Elevat... ORPHA:562
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Hypophosphatasia
Craniosynostosis, Narrow chest, Bowing of the long bones, Recurrent fractures, Abnormality of the... ORPHA:436
Mucolipidosis Iii Alpha/Beta
Scoliosis, Craniosynostosis, Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Cryptorchidism, Platyspondyly, Genu valgum, Azoospermia, Joint swelling, Abnormality o... ORPHA:534
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Spina bifida occulta, Short foot, Abnormality of the ribs, Osteopenia, Short neck, Mi... ORPHA:488434
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Short femur, Bowed humerus, Radial bo... OMIM:211350
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Abnormal thorax morphology, Abnormally ossified verte... ORPHA:1318
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundice ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundice ORPHA:529808
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Ulbright-Hodes Syndrome
Cryptorchidism, Abnormality of the ribs, Hypoplasia of the radius, Fibular aplasia, Humeroradial ... ORPHA:3404
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Platyspondyly, Metaphyseal chondrodysplasia, Narrow chest, Short... ORPHA:93317
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... ORPHA:91351
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Elbow dislocation, Kyphosis, Recurrent fracture... ORPHA:2769
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Camptodactyly of finger, Craniosynostosis, Hypoplasia of penis, Elbow dislocation... ORPHA:2554
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Narrow chest, Forearm undergrowth, Absen... OMIM:251230
Holzgreve Syndrome
Hand polydactyly, Abnormality of the metacarpal bones, Abnormally ossified vertebrae, Joint stiff... ORPHA:2167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Preaxial hand polydactyly, Abnormal thumb morphology, Short distal phalanx of finger, Short thumb... ORPHA:1120
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Poorly ossified vertebrae, Enlarged thorax... ORPHA:3003
Trisomy 10P
Low voltage EEG, Macrotia, Absent gallbladder, Dysphagia, EEG with burst suppression, Gastroesoph... ORPHA:171929
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Decreased calvarial ossification, Preaxial polydactyly, Hori... OMIM:617925
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the ulna, Sh... OMIM:266910
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Unicoronal synostosis, Squared iliac bones, Narrow chest, Hy... OMIM:616300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Arthrogryposis, Distal, Type 2A
High palate, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Occipital Horn Syndrome
Osteoporosis, Platyspondyly, Limited elbow extension, Genu valgum, Broad ribs, Narrow chest, Join... OMIM:304150
Cat-Eye Syndrome
Abnormality of the ribs, Hip dysplasia ORPHA:195
Thymoma
Pancytopenia, Abnormal lymphocyte morphology, B lymphocytopenia, Hemolytic anemia ORPHA:99867
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Scrotal hypoplasia, Short distal phalanx of finge... OMIM:269150
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Wormian bones, Epiphyseal stippling, Narrow ches... ORPHA:96334
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis OMIM:616084
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Elbow ankylosis, Recurrent fractures, De... ORPHA:83
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome