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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 auditory brainstem response Scmh1tm1e.1(EUCOMM)Hmgu HOM   Early adult 0.00560
abnormal liver morphology Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00
enlarged cecum Scmh1tm1e.1(EUCOMM)Hmgu HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 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
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Immunodeficiency 40
Lymphopenia OMIM:616433
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism OMIM:241000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Immunodeficiency 8
Lymphopenia OMIM:615401
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Bicornuate uterus, Short neck, Aplasia/hypoplasia of the uterus, A... ORPHA:2578
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Hypospadi... ORPHA:2522
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Maternal Uniparental Disomy Of Chromosome X
Flexion contracture, Camptodactyly of finger, Short neck, Scoliosis, Shield chest, Ambiguous geni... ORPHA:261519
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Abnormal th... ORPHA:1445
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Abnormality of the cervical spine, Male hypogonadism, Superior ri... OMIM:307500
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
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 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... OMIM:618469
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hypoplasia of penis, Hemivertebrae, Short neck, Abnormal fo... ORPHA:2234
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... OMIM:229070
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Dumbbell-shaped long b... ORPHA:485
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Abnormality of the vertebral colum... OMIM:601076
Androgen Insensitivity, Partial
Infertility, Abnormal rib cage morphology, Micropenis, Bifid scrotum, Male pseudohermaphroditism,... OMIM:312300
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Multinucleated giant chondrocytes i... OMIM:108720
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, Cubitus valgus, Short 4th metacarpal, Azoospermia ORPHA:2183
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Hypoplastic sacrum, Delayed cranial suture closure, He... OMIM:113000
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, External genital hypoplasia, Generalized join... ORPHA:99330
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Delayed menarche,... ORPHA:52901
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Micropenis, Hypogonadotropic hypogonadism, Wormian bones, Tapered finger, Short ... OMIM:617159
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Partial fusion of t... OMIM:305620
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Familial Male-Limited Precocious Puberty
Precocious puberty, Accelerated skeletal maturation, Oligospermia, Long penis, Male infertility, ... ORPHA:3000
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arthritis, Azoospermia OMIM:602390
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
48,Xyyy Syndrome
Dislocated radial head, Short neck, Radioulnar synostosis, Male hypogonadism, Azoospermia ORPHA:99329
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
48,Xxyy Syndrome
Infertility, Clinodactyly of the 5th finger, Hypoplasia of penis, Hypergonadotropic hypogonadism,... ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Cryptorchidism, Scapular winging, Pectus c... OMIM:617796
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... OMIM:612885
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
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Narrow chest, Limited pronation/s... ORPHA:1724
Kbg Syndrome
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Th... ORPHA:2332
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Platyspondyly, Ant... OMIM:602271
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thoracic kyphosis ORPHA:530983
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Diastrophic Dysplasia
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... ORPHA:628
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral... ORPHA:377
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Supernumerary ver... OMIM:271520
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Male infertility, Azoos... OMIM:301077
48,Xxxy Syndrome
Infertility, Clinodactyly of the 5th finger, Hypoplasia of penis, Down-sloping shoulders, Short n... ORPHA:96263
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... ORPHA:2790
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... ORPHA:93267
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... OMIM:612852
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... OMIM:610017
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Supernumerary nipple, Scoliosis, Abnormality of tibia mor... ORPHA:64755
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... ORPHA:1988
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
49,Xxxxy Syndrome
Infertility, Clinodactyly of the 5th finger, Hypoplasia of penis, Down-sloping shoulders, Short n... ORPHA:96264
Mosaic Trisomy 14
Narrow chest, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Abnormal rib... ORPHA:1703
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Pectus excavatum, Abnormal vertebral segmentatio... ORPHA:915
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Finger clinodactyly, Varicocele, Male infe... ORPHA:8
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Radioulnar synostosis, H... ORPHA:2319
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... ORPHA:93351
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism OMIM:614897
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, High palate, EEG abnormali... OMIM:617519
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Hypospadias, Camptodactyly of finger, Short ... ORPHA:2311
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe synd... OMIM:263540
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Small hand... OMIM:300845
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... ORPHA:168549
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... ORPHA:508498
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
3M Syndrome
Congenital hip dislocation, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Osteoporosis, Arthropat... OMIM:235200
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Pectus carinatum, Sagittal craniosynostosis, Broad distal... OMIM:101200
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Sh... OMIM:609053
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Kyphosis, Impotence, Lumbar hyperlordosis, Cryptorchidism, Small pituitary gland, St... ORPHA:2232
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Pectus excavatum, Streak ovary, Ambiguous genitalia, Abnormal intern... ORPHA:1772
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... OMIM:619227
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Bro... ORPHA:3082
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Hypoplasia of penis, Decreased calvarial ossification, Abnormal rib morpholo... ORPHA:2772
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
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Prune Belly Syndrome
Urogenital sinus anomaly, Vertebral segmentation defect, Pectus excavatum, Cryptorchidism, Congen... ORPHA:2970
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Thin ribs, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, Pe... ORPHA:456328
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... ORPHA:280679
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... ORPHA:3109
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Absent outer dynein arms OMIM:618300
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... OMIM:130720
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Finger cli... OMIM:617137
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Verheij Syndrome
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, 2-3 toe syndactyly, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias ORPHA:276422
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Abnormal vertebral morphology, Abnormal rib morphol... ORPHA:280195
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Rectovaginal fistula, Short neck ORPHA:1780
8P11.2 Deletion Syndrome
Supernumerary ribs, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypogonadism, Azoospermia... ORPHA:251066
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... OMIM:308700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Ankle flexion contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture... ORPHA:1145
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Joint hypermobility, Cone-shaped epiphysis, Brachydactyly, Scolios... OMIM:157800
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:312150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Hemivert... OMIM:206900
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Hypospadias, Osteopenia, Short ne... OMIM:611209
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Overlapping toe, Thin ribs, Micropenis, Arachnodactyly, Contracture of the distal... ORPHA:83617
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Long clavicles... OMIM:171480
Apert Syndrome
Vertebral segmentation defect, Ovarian neoplasm, Broad thumb, Cervical C5/C6 vertebrae fusion, Ap... ORPHA:87
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:253290
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosi... OMIM:109400
Chops Syndrome
Cervical C2/C3 vertebral fusion, Cryptorchidism, Brachydactyly, Tracheomalacia OMIM:616368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2... OMIM:148050
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, male, Decre... ORPHA:90791
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abse... ORPHA:392
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... ORPHA:474
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Hypogonadotrop... ORPHA:3068
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Becker Nevus Syndrome
Pectus excavatum, Hemivertebrae, Scoliosis, Unilateral breast hypoplasia, Cervical ribs OMIM:604919
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... OMIM:300232
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib cage morphology, Down-sloping shou... OMIM:227330
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Finger syndactyly, Bifid scrotum, Popliteal pterygium, Scoliosis, Abnormal rib m... ORPHA:1300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Tongu... OMIM:601596
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Arachnodactyly, Hypospadias, Scoliosis... ORPHA:96169
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... ORPHA:1486
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Block vertebrae, Delayed skeletal maturation, Vertebral segmentatio... OMIM:272460
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... ORPHA:582
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Thin ribs, Bifid scrotum, Micropenis, Hypospadias, Unilateral cryptorc... OMIM:300219
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Bicornuate uterus,... ORPHA:958
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... ORPHA:2097
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vert... ORPHA:90652
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... OMIM:269250
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, V... ORPHA:2911
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Bell-sh... OMIM:166210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Femoral bowing, Primary amenorrhe... ORPHA:95699
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Hypospadias, Flared met... OMIM:616897
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Delayed skeletal maturation, Enl... ORPHA:91348
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Rib fusion, Overlapping toe, Beaking of vertebral bodies, Pectus excavatum, Supernume... OMIM:213980
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormality of the urethra, Brachydactyly, Abnormal rib morphology, Split hand,... ORPHA:2145
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Clitoral hypertrophy, Shawl s... OMIM:224690
Mosaic Trisomy 8
Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th finger, Camptodactyly of fin... ORPHA:96061
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Bone marrow hyp... OMIM:301078
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Hypospadias,... ORPHA:3242
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Vacterl/Vater Association
Vertebral segmentation defect, Hypoplasia of penis, Finger syndactyly, Bifid scrotum, Hypospadias... ORPHA:887
Aromatase Deficiency
Delayed skeletal maturation, Delayed epiphyseal ossification, Bone pain, Ambiguous genitalia, fem... ORPHA:91
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid scrotum, Hypospadias, Brachydactyly, Sho... OMIM:211380
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Micropenis, Short ribs,... OMIM:613091
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Short ribs, Hypospadias, Cone-shaped epiphyses of phalanges 2 to ... OMIM:225500
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Abno... ORPHA:1834
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Ring Chromosome 22 Syndrome
Azoospermia, 2-3 toe syndactyly ORPHA:1446
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Dysosteosclerosis
Short sternum, Osteopenia, Platyspondyly, Broad ribs, Sclerotic scapulae, Delayed closure of the ... OMIM:224300
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:618534
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Supernumerary nipple, Short ribs, Micropenis, Postaxial hand polydac... ORPHA:2519
H Syndrome
Amenorrhea, Recurrent fractures, Micropenis, Camptodactyly, Hallux valgus, Osteolysis, Decreased ... ORPHA:168569
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Narrow chest, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Thin ribs, Decreased calvarial ossification, Biconc... OMIM:259420
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Joint hypermobility, Multiple rib fractures, Osteopenia, Decre... OMIM:616229
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... ORPHA:99429
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... ORPHA:2876
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax, Abnormal enchondral ... ORPHA:93298
Koolen-De Vries Syndrome
Kyphosis, Pectus excavatum, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominen... OMIM:610443
Diphallia
Distal urethral duplication, Butterfly vertebrae, Absent thumb, Bifid scrotum, Hypospadias, Hemiv... ORPHA:227
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... OMIM:618019
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Abnormal morphology of female internal genitalia... ORPHA:3378
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Classic Galactosemia
Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Osteoporosis, Decreased fertili... ORPHA:79239
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Abnormal auditory ... OMIM:201050
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... OMIM:200600
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Shor... OMIM:276820
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Testicular adrenal rest tumor, Azoospermia, Cryptorchi... ORPHA:361
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Decreased response to growth hormone stimulation test, Micropenis,... OMIM:602782
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Decreased response to growth horm... ORPHA:444077
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, ... ORPHA:3258
Myhre Syndrome
Joint stiffness, Precocious puberty, Large iliac wing, External genital hypoplasia, Abnormal peni... ORPHA:2588
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Acrorenal-Mandibular Syndrome
Absent nipple, Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Rudimentary fibula, Hyp... OMIM:200980
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of joint mobility, Co... OMIM:139210
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Joint hypermobility, Thin ribs, Femoral bowing, Biconcave vertebral bodies, ... OMIM:617952
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ab... ORPHA:52
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, J... ORPHA:2050
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... OMIM:308205
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Symphalangism affecting the phalanges of the hand, Hypogonadism, Pterygium, Sma... ORPHA:2990
Aicardi Syndrome
Bifid ribs, Rib fusion, Precocious puberty, Butterfly vertebrae, Small hand, Scoliosis, Missing r... ORPHA:50
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Primary amenorrhea, Bilateral cryptorchidism, Delayed skeletal matura... ORPHA:90793
Fanconi Anemia
Abnormality of femur morphology, Absent testis, Decreased fertility in males, Hypoplasia of the u... ORPHA:84
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... OMIM:606367
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... ORPHA:443811
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Reduced bone mineral density, Camptodactyly of finger, Scoliosis, A... ORPHA:1488
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Thin ribs, Femoral retroversion, Fem... OMIM:610915
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, External genital hypoplasia, Cryptorc... ORPHA:97360
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Acetabular... ORPHA:1505
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs, Vaginal atresia, Cryptorchi... ORPHA:3301
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Ovarian cyst, Abnormality of the h... ORPHA:249
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Accelerated skeletal maturation, Congenital hip dislocation, Short neck, Verteb... ORPHA:373
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Clitoral hypoplasia, Hy... OMIM:609945
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Micropenis, Pancreatic fibrosis, Platyspondyly, ... OMIM:263520
Aicardi Syndrome
Bifid ribs, Rib fusion, Precocious puberty, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missin... OMIM:304050
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... ORPHA:79345
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed skeletal maturation, Abnormal spermatogenesis ORPHA:90646
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Finger syndactyly, Arachnodactyly, Prominent metopic ridge, Camptodac... ORPHA:2215
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus carinatum, Abn... ORPHA:175
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Hypoplastic labia majora, Sprengel... OMIM:134780
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Proximal symphalangism of hands, Progressive sclerosis of skull base, Hyperextensibility... OMIM:151050
Trisomy 1Q
Arachnodactyly, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal rib morphology, Ambi... ORPHA:261344
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Wolf-Hirschhorn Syndrome
Radioulnar synostosis, Delayed skeletal maturation, Sacral dimple, Rib fusion, Precocious puberty... OMIM:194190
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Congenital hypoparathyroidism, Small hand, Thin clavicles, Slender lon... OMIM:244460
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... OMIM:182212
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Decreased fertility in females, Hand polydactyly, Azo... OMIM:210900
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation ORPHA:2643
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... ORPHA:85184
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Decreased nerve conducti... ORPHA:206443
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Osteogenesis Imperfecta, Type X
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... OMIM:613848
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Microcephaly, Short Stature, And Limb Abnormalities