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 |
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Chordee, Proximal symphalangism of hands, Progressive sclerosis of skull base, Hyperextensibility... |
OMIM:151050 |
Trisomy 1Q |
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Arachnodactyly, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal rib morphology, Ambi... |
ORPHA:261344 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... |
ORPHA:3035 |
Wolf-Hirschhorn Syndrome |
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Radioulnar synostosis, Delayed skeletal maturation, Sacral dimple, Rib fusion, Precocious puberty... |
OMIM:194190 |
Kenny-Caffey Syndrome, Type 1 |
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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 |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... |
OMIM:182212 |
Oculocerebrocutaneous Syndrome |
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Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... |
ORPHA:1647 |
Bloom Syndrome |
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Clinodactyly of the 5th finger, Syndactyly, Decreased fertility in females, Hand polydactyly, Azo... |
OMIM:210900 |
Schwartz-Jampel Syndrome |
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Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... |
ORPHA:800 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly, Delayed skeletal maturation |
ORPHA:2643 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... |
ORPHA:85184 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Decreased nerve conducti... |
ORPHA:206443 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Osteogenesis Imperfecta, Type X |
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Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... |
OMIM:613848 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Microcephaly, Short Stature, And Limb Abnormalities |
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