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Gene: Scmh1 MGI:1352762

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Gene Summary

Name:
sex comb on midleg homolog 1
Synonyms:
Scml3

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 liver morphology Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
enlarged cecum Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
abnormal auditory brainstem response Scmh1tm1e.1(EUCOMM)Hmgu HOM   Early adult 0.00859

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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

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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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
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
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
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
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 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 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
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 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
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Syndactyly OMIM:241000
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma... ORPHA:2578
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
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 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
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 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... ORPHA:2522
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
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
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Deleted in azoospermia
Azoospermia OMIM:400003
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Azoospermia, Cubitus valgus, Short neck, Ambiguous genitalia, Shield che... ORPHA:261519
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Amenor... ORPHA:1445
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Male hypogonadism, Hypergonadotropic hypogonadism, Superior ri... OMIM:307500
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Ap... ORPHA:3320
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypog... ORPHA:2234
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
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
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Short 4th metacarpal, Cubitus valgus, Short neck, Hypergonadotropic hypogonadism ORPHA:2183
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Androgen Insensitivity, Partial
Abnormal rib cage morphology, Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoo... OMIM:312300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypo... OMIM:601076
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Cryptorchidism, Short neck... OMIM:108720
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Cryptorchidism, Thoracic scoliosis, Cervical C2/C3 vertebral fusion... OMIM:618000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Delayed... ORPHA:99330
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed skeletal maturation, Decreased testicular size, Azoospermia, Delayed m... ORPHA:52901
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm... OMIM:277300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Hypogonadism, Decrea... OMIM:229070
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Cryptorchidism, Arachnodactyly, Shor... OMIM:265000
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... OMIM:618086
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Spermatogenic Failure 17
Male infertility OMIM:617214
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Short clavicles, Hypogonadotropic hypogonadism, Wormian bones, Ambiguous genitali... OMIM:617159
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Young Syndrome
Azoospermia OMIM:279000
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short thorax, Abnormal morphology of female internal genitalia, Verte... ORPHA:1797
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Delayed skeletal maturation, Decreased testicular size, Azoospermia, Cryptorchidism, ... OMIM:614837
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Radioulnar synostosis, Short neck, Dislocated radial head ORPHA:99329
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Infertility OMIM:602390
48,Xxyy Syndrome
Elbow dislocation, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, Clinodac... ORPHA:10
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Cervical C2/C3 ... OMIM:617796
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Accelerated skeletal maturation, Oligozoospermia, Macroorchidism,... ORPHA:3000
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia, Proximal femoral metaphyseal irregul... OMIM:602271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Kbg Syndrome
Finger clinodactyly, Persistent open anterior fontanelle, Cervical ribs, Delayed skeletal maturat... ORPHA:2332
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Male hypogonadism, Delayed skeletal maturation, Non-obstructive azoospermia, Decrease... ORPHA:432
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Mosaic Trisomy 20
Narrow chest, Clinodactyly, Spinal canal stenosis, Cryptorchidism, Down-sloping shoulders, Verteb... ORPHA:1724
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Bowing of the long bones, Abno... ORPHA:628
Lamb-Shaffer Syndrome
Thoracic kyphosis, Hip dysplasia, Scoliosis, Fused cervical vertebrae ORPHA:530983
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
48,Xxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96263
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
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
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion, Sacral dimple OMIM:618845
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Ab... ORPHA:2635
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri... ORPHA:1354
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Postaxial ... OMIM:615633
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the va... OMIM:271520
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
49,Xxxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96264
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... OMIM:610017
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Cryptorchidism, Short neck, Abnormal rib morphology, Hypop... ORPHA:1703
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal sac... ORPHA:1988
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Becker Nevus Syndrome
Pectus carinatum, Supernumerary nipple, Abnormal tibia morphology, Abnormal scrotum morphology, S... ORPHA:64755
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Joint hy... ORPHA:915
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulat... ORPHA:8
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Limit... ORPHA:93351
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Brachydac... ORPHA:2916
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... OMIM:178110
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Crypto... ORPHA:3027
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
3M Syndrome
Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the e... ORPHA:2616
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... OMIM:101200
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abn... ORPHA:2311
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical hemivertebrae, Broad p... ORPHA:508498
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Hemochromatosis, Type 1
Azoospermia, Arthropathy, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Osteopor... OMIM:235200
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Cryptorchidism, Arachnodactyly, Hypogonadotropi... ORPHA:377
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... OMIM:619227
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Kyphosis, Aplasia/hypoplasia of the uterus, Non-obstructive az... ORPHA:2232
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation... OMIM:609053
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion... ORPHA:313892
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Decreased calvarial ossification, Joint hypermobility, Ambiguous genitalia, Abnor... ORPHA:2772
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... ORPHA:3109
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Elbow contractur... OMIM:617137
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Sensorineural hearing impairment, Absent brainstem auditory responses, E... OMIM:617519
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Joint hyperm... ORPHA:456328
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
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, Hy... ORPHA:280679
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Prune Belly Syndrome
Congenital hip dislocation, Abnormality of the uterus, Decreased testicular size, Decreased ferti... ORPHA:2970
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Shashi-Pena Syndrome
Kyphosis, Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scolios... OMIM:617190
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Beaking of vertebral bodies, S... OMIM:150250
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Duane-Radial Ray Syndrome
Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly, Short humerus,... OMIM:607323
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Incre... OMIM:312150
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Supernumerary ribs, Hypogonadotropic hypogonadism, Hyp... ORPHA:251066
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Rectovaginal fistula, Hemivertebrae ORPHA:1780
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic... OMIM:157800
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Microphthalmia, Syndromic 3
Butterfly vertebrae, Cryptorchidism, Missing ribs, Hypogonadotropic hypogonadism, Supernumerary r... OMIM:206900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... OMIM:602111
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Cervical C5/C6 vertebrae fusion, Vertebral segmen... ORPHA:87
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Ovarian carcin... OMIM:109400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... ORPHA:90791
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Elevated circulating luteinizing hormone level, Decreased response to growth hormone ... OMIM:300845
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly OMIM:620282
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Overlapping toe, Cont... ORPHA:83617
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Incre... OMIM:253290
Chops Syndrome
Cervical C2/C3 vertebral fusion, Brachydactyly, Cryptorchidism, Tracheomalacia OMIM:616368
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... ORPHA:392
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Cryptorchidism, Proximal pla... OMIM:613458
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Abnormal hip bone mo... ORPHA:3068
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Becker Nevus Syndrome
Cervical ribs, Unilateral breast hypoplasia, Hemivertebrae, Pectus excavatum, Scoliosis OMIM:604919
Immunodeficiency 115 With Autoinflammation
Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly OMIM:620632
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Bifid scrotum, Joint stiff... ORPHA:1300
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Cryptorchidism, Down-sloping shoulders, Vertebral fusion, Shawl scr... OMIM:227330
Koolen-De Vries Syndrome
Kyphosis, Cryptorchidism, Vertebral segmentation defect, Arachnodactyly, Joint hypermobility, Pec... ORPHA:96169
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Cryptor... OMIM:612447
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... ORPHA:582
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Uterus didelphys, Finger syndactyly,... ORPHA:958
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Jo... OMIM:300219
Lateral Meningocele Syndrome
Sclerosis of skull base, Cryptorchidism, Biconcave vertebral bodies, Joint hypermobility, Wormian... OMIM:130720
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Verheij Syndrome
Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... OMIM:615583
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... ORPHA:90652
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, High palate, Abnormal auditory evoked potentials, Abnormality of visual evoked... OMIM:617523
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Elevated circulating luteinizing hormone lev... ORPHA:95699
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla... ORPHA:2911
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Delayed skeletal maturation, Decreased response to gro... ORPHA:91348
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Supernumerary nipple, Decreased response to growth hormone stimulation test, Overla... OMIM:213980
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... OMIM:228520
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... OMIM:617895
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Sh... OMIM:616897
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Meier-Gorlin Syndrome 1
Thin ribs, Clitoral hypertrophy, Joint contracture of the hand, Small hand, Elbow dislocation, Cu... OMIM:224690
Renpenning Syndrome
Decreased testicular size, Joint stiffness, Abnormal thumb morphology, Sprengel anomaly, Pectus e... ORPHA:3242
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ... ORPHA:96061
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Short thorax, Delay... ORPHA:2484
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Prominent fingertip pads, Cryptorchidism, Spondylolisthesis, Joint hype... OMIM:610443
Elsahy-Waters Syndrome
Bifid scrotum, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger... OMIM:211380
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, Joint hypermobili... ORPHA:2475
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... ORPHA:2180
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Azoospermia ORPHA:1446
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal morpholog... ORPHA:1834
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Hemiver... ORPHA:2759
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Bifid scrotum, Abnormal morphology of female... ORPHA:887
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Female infertility, Delayed skeletal maturation, Mal... ORPHA:91
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
H Syndrome
Delayed skeletal maturation, Osteolysis, Hypogonadism, Decreased testicular size, Azoospermia, Am... ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Recurrent fractures, Bowing of limbs due to multiple fractures, Tib... OMIM:259420
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Cryptorchidism, Short ribs, Abnorm... ORPHA:2519
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ovoid vertebral bodies, ... OMIM:253010
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Dysosteosclerosis
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... OMIM:224300
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Azoospermia, Cryptorchidism, Testicular adrenal rest t... ORPHA:361
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Decreas... ORPHA:444077
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Recurrent fractures, Joint hypermobility, Bowing of the lo... ORPHA:2050
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... OMIM:200600
Myhre Syndrome
Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Short toe, Clinodactyly, Shor... OMIM:139210
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Abnormal rib morphology, Abnormal morpholog... ORPHA:3378
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short neck, Short thorax... ORPHA:93298
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Platyspondyly, Abnormal epiphysis morphology, Hypo... ORPHA:2588
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Osteoporosis,... ORPHA:79239
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Symphalangism aff... ORPHA:2990
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Pancreatic hypoplasia, Tibial torsion, Camptodactyly of finger, Elbow flexion contr... OMIM:602782
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp... OMIM:602196
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Bowing of the long bon... OMIM:616229
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Aicardi Syndrome
Precocious puberty, Small hand, Block vertebrae, Butterfly vertebrae, Supernumerary ribs, Missing... ORPHA:50
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... ORPHA:52
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm... ORPHA:1488
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Osteopenia, Kyphosis, Radial bowing, Slender long bone, Femoral bowing,... OMIM:610915
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bo... OMIM:617952
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Missing ribs, Abnormal rib morphology, V... ORPHA:3301
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Hypospadias, Hi... ORPHA:84
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... OMIM:215140
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Robinow Syndrome
Webbed penis, Small scrotum, Short distal phalanx of finger, External genital hypoplasia, Cryptor... ORPHA:97360
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowing of the long bones, Elevated circula... ORPHA:249
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Short neck,... ORPHA:373
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Osteopenia, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Cryptorchidism, S... OMIM:609945
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... ORPHA:1452
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph... ORPHA:79345
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Diphallia
Penoscrotal transposition, Absent thumb, Bifid scrotum, Ectopic scrotum, Butterfly vertebrae, Cry... ORPHA:227
Bloom Syndrome
Azoospermia, Cryptorchidism, Hand polydactyly, Decreased fertility in females, Clinodactyly of th... OMIM:210900
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia ORPHA:397596
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Cryptorchid... OMIM:151050
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, ... ORPHA:2215
Aicardi Syndrome
Precocious puberty, Block vertebrae, Butterfly vertebrae, Supernumerary ribs, Missing ribs, Rib f... OMIM:304050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Shor... OMIM:271640
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... ORPHA:3035
Wolf-Hirschhorn Syndrome
Cryptorchidism, Radioulnar synostosis, Short hallux, Hypospadias, Hip dislocation, Precocious pub... OMIM:194190
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Bowing of th... ORPHA:800
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossificati... OMIM:244460
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu... ORPHA:89936
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Trisomy 1Q
Small scrotum, Toe syndactyly, Short thorax, Preaxial hand polydactyly, Camptodactyly of finger, ... ORPHA:261344
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Genu recurvatum, Joint contracture of the hand, Pectus carinatum, Osteopenia, Genu val... OMIM:182212
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cryptorchidism, Mi... ORPHA:1647
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Thoracic hypoplasi... OMIM:211350
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap... ORPHA:436
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hyperparathyroidism, Abnormal epiphysis morphology, Kyphosis, Osteomalacia, Azoosp... ORPHA:534
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Joint stiffness, ... OMIM:608940
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... ORPHA:1318
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Delayed skeletal maturation, Thickened cortex of long... ORPHA:488434
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Delayed skeletal... ORPHA:93317
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Clitoral hypertrophy, Abnormal epiphysis morphology, Elbow dislocation, Slende... ORPHA:2554
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Abnormal form of the ... ORPHA:2769
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A... ORPHA:2167
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Ulbright-Hodes Syndrome
Abnormal penis morphology, Thin ribs, Clitoral hypertrophy, Abnormal forearm bone morphology, Fib... ORPHA:3404
Femoral-Facial Syndrome
Toe syndactyly, Cryptorchidism, Humeroradial synostosis, Limited elbow movement, Radioulnar synos... OMIM:134780
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Gastroesophageal reflux, EEG with burst suppre... ORPHA:171929
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Narrow chest, Osteopenia, Metaphyseal spurs, Femor... OMIM:618188
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... OMIM:614700
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b... ORPHA:83
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis ORPHA:2145
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly, Mic... OMIM:602361
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Bell-... OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Uterus didelphys, Preaxial polydactyly, Septate vagina, Absent gallbla... OMIM:617925
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Gastroesophageal reflu... ORPHA:206436
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Pyknoachondrogenesis
Abnormal intramembranous ossification, Unossified sacrum, Short iliac bones, Sclerosis of skull b... ORPHA:3003
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Short neck, Long c... OMIM:269150
Arthrogryposis, Distal, Type 2A
High palate, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... OMIM:600920
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility ORPHA:125
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, ... OMIM:208500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Cholelithiasis, Azoospermia, Hallux valgus, Pectus excavatum, Scoliosis ORPHA:2072
Monosomy 9Q22.3
Abnormality of the vertebral column, Abnormal rib morphology, Polydactyly, Joint hypermobility, S... ORPHA:77301
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Cockayne Syndrome Type 1
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hearing impairment, Abnor... ORPHA:90321
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... ORPHA:93473
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Delayed cranial suture closure, Crumpled long bones, Decreased calvaria... OMIM:610682
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... ORPHA:666
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Cryptorchidism, Prolonged G2 phase of cell cycle, Ab... OMIM:227650
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb... ORPHA:233
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... ORPHA:3015
Monosomy 9P
Limitation of joint mobility, Abnormality of the vertebral column, Abnormal rib morphology, Abnor... ORPHA:261112
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... ORPHA:909
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia ORPHA:293978
Dextrocardia
Abnormal reproductive system morphology, Congenital hip dislocation, Pancreatic hypoplasia, Abnor... ORPHA:1666
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Decreased proportion of naive T cells, Coombs-positive ... ORPHA:83471
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Noonan Syndrome 1
Clinodactyly, Radial deviation of finger, Abnormal sternum morphology, Hypogonadism, Cryptorchidi... OMIM:163950
Aspergillosis
Osteomyelitis, Abnormality of the vertebral column, Abnormal long bone morphology, Abnormal rib m... ORPHA:1163
Pagod Syndrome
Abnormal clavicle morphology, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia OMIM:300755
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Hydrometrocolpos, Horizontal ribs, Short ribs, Postaxial pol... OMIM:617088
Vater/Vacterl Association
Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm... OMIM:192350
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia OMIM:620005
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Short neck, ... ORPHA:818
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells OMIM:307200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Vici Syndrome
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... OMIM:242840
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Woodhouse-Sakati Syndrome
Osteopenia, Delayed skeletal maturation, Hypogonadism, Decreased testicular size, Decreased respo... ORPHA:3464
Trisomy 18
Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnormal morphology of fem... ORPHA:3380
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorch... ORPHA:857
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab... ORPHA:2907
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Fraser Syndrome
Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap... ORPHA:2052
Charge Syndrome
Bifid femur, Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormal tibia morp... ORPHA:138
Mend Syndrome
Low-set ears, High palate, Abnormal auditory evoked potentials, Cleft palate ORPHA:401973
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Ava... ORPHA:581
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... OMIM:619381
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Charge Syndrome
Cryptorchidism, Radial head subluxation, Absent radius, Hypoparathyroidism, Hand monodactyly, Par... OMIM:214800
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Phimosis, Short 4th metacarpal,... ORPHA:2908
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Short long bone OMIM:306955
Cystinosis, Nephropathic
Male hypogonadism, Rachitic rosary, Rickets, Delayed skeletal maturation, Genu valgum, Hypophosph... OMIM:219800
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bon... ORPHA:667
Cystic Fibrosis
Osteoporosis, Osteopenia, Absent vas deferens, Male infertility ORPHA:586
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... OMIM:118450
Craniofacial Microsomia 1
Block vertebrae, Cervical ribs, Genu valgum, Partial duplication of thumb phalanx, Hemivertebrae,... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scmh1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scmh1.

No publications found that use IMPC mice or data for Scmh1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Scmh1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scmh1tm1e.1(EUCOMM)Hmgu Promoter excision from Targeted, non-conditional allele Mice
Scmh1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele Mice, ES Cells
Scmh1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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