Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
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 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Atelosteogenesis, Type I |
|
Laryngeal stenosis, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, ... |
OMIM:108720 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Fused cervical ver... |
ORPHA:2522 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Gordon Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Limitation of joint mo... |
ORPHA:376 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... |
OMIM:151200 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Fused cervical vertebrae... |
OMIM:214300 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia |
OMIM:241000 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Osteoart... |
OMIM:618000 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Low-set ea... |
OMIM:616549 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Small hand, Narrow palm, Azoospermia, Infert... |
ORPHA:1445 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Anteg... |
OMIM:305620 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Cupp... |
OMIM:617159 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis,... |
OMIM:618393 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoraci... |
ORPHA:530983 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Short neck, Cryptorchidism, S... |
ORPHA:2332 |
Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... |
ORPHA:1826 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Radiouln... |
ORPHA:3268 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 ver... |
OMIM:617333 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Genu recurvatum,... |
ORPHA:915 |
Gorlin Syndrome |
|
Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Hemiver... |
ORPHA:377 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cryptorchidism, Kypho... |
ORPHA:1724 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorc... |
OMIM:617796 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Spondylocostal Dysostosis 5 |
|
Low back pain, Vertebral fusion, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel mo... |
ORPHA:2916 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly, Stillbirth, ... |
ORPHA:294975 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Congenital sensorineural hearing impairment, Short neck |
ORPHA:3456 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Postnatal growth retardation, Cryptorchidism, Macrotia, Congenital knee dislocation, Bilateral ta... |
ORPHA:319332 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear... |
OMIM:617190 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi... |
ORPHA:3000 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Scoliosis, Abnormal sperm morphology, Decreased testicular s... |
ORPHA:320391 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Scoliosis, Conductive hea... |
OMIM:118100 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Vertebral fusion, Vertebral segmentation defect, Sacral dimple |
OMIM:618845 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
Fanconi Anemia, Complementation Group I |
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Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short neck, S... |
OMIM:609053 |
Weaver Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact... |
ORPHA:3447 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Monosomy 5P |
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Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Recurrent... |
ORPHA:281 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Cryptorchidism, Ky... |
OMIM:611890 |
Frontometaphyseal Dysplasia 2 |
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Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clin... |
OMIM:617137 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Clinodactyly, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density,... |
ORPHA:93315 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Carpenter Syndrome |
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Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... |
ORPHA:65759 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Vertebral fusion, Hip contracture, Ptosis, Tarsal synostosis, Multiple pterygia, Craniosynostosis... |
OMIM:178110 |
Thrombocytopenia-Absent Radius Syndrome |
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Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Apert Syndrome |
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Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Symphalangism, Proximal, 1A |
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Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Short stature, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyl... |
ORPHA:166024 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... |
ORPHA:508498 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Duane-Radial Ray Syndrome |
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Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Diaphanospondylodysostosis |
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Abnormal vertebral segmentation and fusion, Missing ribs, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
Sillence Syndrome |
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Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly |
OMIM:615983 |
Chromosome 16Q22 Deletion Syndrome |
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Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Hypospadias, Posteriorly ... |
OMIM:614541 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,... |
OMIM:244600 |
Morbid Obesity And Spermatogenic Failure |
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Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Urban-Rogers-Meyer Syndrome |
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Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... |
ORPHA:3409 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Syndactyly, Stapes ankylosis, Short stature, Single transverse palmar crease, Vertebral clefting,... |
OMIM:614701 |
Chromosome 16P13.3 Duplication Syndrome |
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Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Tapered finger, Short thum... |
OMIM:613458 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo... |
ORPHA:95699 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Short stature, Retrognathia, Fused cervical vertebrae, Low-set ears, Spina bifida occulta, Butter... |
OMIM:619227 |
Cardiospondylocarpofacial Syndrome |
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Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Short stature, Delayed skeletal mat... |
OMIM:157800 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... |
OMIM:268310 |
Syndactyly, Type Iii |
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Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Spermatogenic Failure 14 |
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Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, ... |
ORPHA:3082 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Micrognathia, Precocious puberty, Postnatal growth retardation, Small hand, Short foot, Scoliosis... |
ORPHA:254531 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Silver-Russell Syndrome 3 |
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Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Short stature, Elbow contracture, Pos... |
OMIM:616489 |
Larsen Syndrome |
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Finger syndactyly, Short stature, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... |
ORPHA:503 |
Three M Syndrome 1 |
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Joint dislocation, Mandibular prognathia, Scapular winging, Hypospadias, Short stature, Hyperlord... |
OMIM:273750 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
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Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Microphthalmia With Limb Anomalies |
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Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Verheij Syndrome |
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Joint laxity, Vertebral fusion, Short stature, Short neck, Hip dislocation, Hemivertebrae, Growth... |
OMIM:615583 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... |
OMIM:171480 |
Arthrogryposis, Distal, Type 3 |
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Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... |
OMIM:114300 |
Chops Syndrome |
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Short stature, Hearing impairment, Tracheomalacia, Cryptorchidism, Thickened helices, Cervical C2... |
OMIM:616368 |
Aarskog-Scott Syndrome |
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Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, Postnatal growth ... |
ORPHA:83617 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Crane-Heise Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... |
ORPHA:1512 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Cornelia De Lange Syndrome 5 |
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Toe syndactyly, Short stature, Proximal placement of thumb, Short neck, Postnatal growth retardat... |
OMIM:300882 |
Thakker-Donnai Syndrome |
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Posteriorly rotated ears, Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vertebr... |
ORPHA:1780 |
Larsen Syndrome |
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Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... |
OMIM:150250 |
Kbg Syndrome |
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Vertebral fusion, Telecanthus, Short neck, Epispadias, Cryptorchidism, Synophrys, Rib fusion, Ver... |
OMIM:148050 |
Polydactyly, Postaxial, Type A5 |
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Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Lateral Meningocele Syndrome |
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Vertebral fusion, Telecanthus, Short neck, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Sc... |
OMIM:130720 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Spondylocarpotarsal Synostosis Syndrome |
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Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... |
OMIM:271520 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... |
OMIM:268305 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Sensori... |
ORPHA:1825 |
Koolen-De Vries Syndrome |
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Vertebral fusion, Epicanthus, Hypospadias, Kyphosis, Cryptorchidism, Hip dislocation, Upslanted p... |
ORPHA:96169 |
Mesomelic Dysplasia, Nievergelt Type |
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Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Syndactyly, Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, Proportionate sho... |
OMIM:227330 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Arnold-Chiari Malformation Type I |
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Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Vertigo, Fused cer... |
ORPHA:268882 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Moebius Syndrome |
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Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Short neck, ... |
OMIM:157900 |
Caudal Regression Syndrome |
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Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... |
ORPHA:3027 |
Gapo Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Short stature, Dysmenorrhea, Hearing impairment... |
ORPHA:2067 |
Ritscher-Schinzel Syndrome 3 |
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Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Cryptorchid... |
OMIM:619135 |
Wahab Syndrome |
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Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Mandibular prognathia, Osteopenia, Short metatarsal, Clitoral hypoplasia, Short metacarpal, Rhizo... |
OMIM:614813 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly |
OMIM:615982 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Posteriorly rotated... |
OMIM:211380 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... |
ORPHA:254516 |
Pde4D Haploinsufficiency Syndrome |
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Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
Bresek Syndrome |
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Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Protruding ear, Growth delay, Scoliosi... |
ORPHA:85284 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... |
OMIM:613686 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Short stature, Micrognathia, Precocious puberty, Cryptorchidism, Postnatal growth retardation, Sm... |
ORPHA:96184 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Micrognathia, Postnatal growth retardation, Cryptorchidism, Low-set ears, Scoliosis, Intrauterine... |
OMIM:615419 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... |
ORPHA:794 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Biconvex ver... |
ORPHA:353298 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Accelerate... |
OMIM:175700 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Short stature, Posteriorly r... |
OMIM:239710 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Severe short stature, Abnormal dental ename... |
ORPHA:1005 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th... |
OMIM:210600 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Underfolded helix, Abno... |
ORPHA:178303 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... |
OMIM:300963 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... |
OMIM:166220 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Micrognathi... |
OMIM:224410 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Flexion contracture, Os... |
ORPHA:88630 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Bilateral single trans... |
ORPHA:2377 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... |
ORPHA:2994 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Conduct... |
ORPHA:444077 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Microretrognathia, Hypospadi... |
ORPHA:1786 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle fle... |
ORPHA:435938 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral f... |
OMIM:139210 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Decreased response to gro... |
ORPHA:2980 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... |
ORPHA:2839 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, Hy... |
ORPHA:2311 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera... |
ORPHA:166119 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Postnatal growth retardation,... |
ORPHA:397590 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation... |
OMIM:272440 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Vertebral segmenta... |
ORPHA:531151 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Ptosis, Epicanthus, Kyphosis, Cryptorch... |
OMIM:610443 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Split foot, F... |
OMIM:183600 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Cryptorchidism, Paten... |
OMIM:206900 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Posteriorly rotated ears, Short hallux, Supernume... |
ORPHA:3224 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femor... |
OMIM:613320 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Epicanthus, Hyperextensibility of the finger joints, Joint hyper... |
OMIM:213980 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... |
OMIM:611209 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Sandal gap, Hypospadia... |
ORPHA:813 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Micrognathia, Joint sti... |
ORPHA:1323 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Thoracic kyphosis, Low-set ears,... |
OMIM:619092 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, External genital hypoplasia, Proximal placement of thumb, Absent... |
OMIM:613390 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Tibial bowing, Micropenis, Streak ovary, Hypospadias, Wide anterior fon... |
ORPHA:798 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Del... |
OMIM:180860 |
Marden-Walker Syndrome |
|
Arachnodactyly, Hypospadias, Short neck, Postnatal growth retardation, Cryptorchidism, Kyphosis, ... |
OMIM:248700 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... |
OMIM:618150 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... |
ORPHA:64754 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Miscarriage, Decreased response to growth hormone s... |
ORPHA:96179 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short stature, Posteriorly rotated ears, Short neck, Micrognathia, Supernumera... |
ORPHA:1787 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Short neck, Micrognat... |
OMIM:609625 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Mandibular prognathia, Short neck, Knee flexion contracture, Spina bifida occu... |
OMIM:193700 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Cryptorchidism, Abnormal 5th finger morphology, Glandular hypos... |
ORPHA:1439 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... |
OMIM:212780 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hyperlordosis, Short neck... |
ORPHA:710 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Precocious ... |
ORPHA:254346 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Short neck, Bilateral cryptorchidism, Coronal hypospadias, Lumbar hemivertebrae, T... |
OMIM:619859 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis |
OMIM:619091 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand ... |
OMIM:252100 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Micrognathia, Joint stiffness, C... |
ORPHA:1300 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Ab... |
OMIM:123450 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
3Mc Syndrome |
|
Abnormal pinna morphology, Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Postnatal g... |
ORPHA:293843 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Neonata... |
OMIM:146510 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Hemivertebrae, Orbital cyst, Vertebral wedging... |
OMIM:109400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Decreased skull ossific... |
OMIM:601163 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Short stature, Delayed skeletal maturation, Abnormal carpal morphology, Made... |
ORPHA:319675 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... |
OMIM:224690 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short stature, Posteriorly rotated ears, Micrognathia, Carious teeth, T... |
OMIM:613684 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... |
OMIM:173800 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn... |
OMIM:236500 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Conductive ... |
OMIM:194190 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Hypospadias, Cam... |
ORPHA:568 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s... |
ORPHA:373 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Short stature, Short n... |
ORPHA:110 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... |
ORPHA:193 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... |
ORPHA:2990 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... |
ORPHA:2215 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hem... |
OMIM:220210 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Short stature, Abnormality of the hand, Short neck, Cryptorchi... |
ORPHA:369891 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnorm... |
ORPHA:2323 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... |
OMIM:304120 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
OMIM:176270 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Short neck, Micrognathia, Prominent... |
OMIM:305450 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ... |
ORPHA:93324 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Protruding ear, Low-set ears, ... |
ORPHA:73246 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Stapes ankylosis, Prominent metopic ridge, Mandibular prognathia, Broad hallux, Sh... |
OMIM:614188 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... |
ORPHA:2145 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Supernumerary nipple,... |
ORPHA:3255 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Short stature, Micrognathia |
ORPHA:1514 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Miscarriage, Abnormality of the menstrual cyc... |
ORPHA:330015 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... |
ORPHA:261318 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p... |
ORPHA:2920 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Limited elbow movement, Craniosynostosis, Postnatal gr... |
OMIM:265050 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... |
OMIM:215140 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Shor... |
ORPHA:434179 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Supern... |
ORPHA:217346 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, Epispadias, Abnormal finger morphology, Symph... |
ORPHA:2658 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral ... |
ORPHA:73230 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... |
ORPHA:783 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Short stature, Short neck,... |
ORPHA:7 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... |
OMIM:300219 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Abnormal pinna morphology, Proximal placement of thumb, Short neck, Micr... |
OMIM:217980 |
Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... |
ORPHA:2492 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospa... |
ORPHA:887 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Vertebral segmentation defect, Micropenis, Dislocated radial head, 2-4 finger... |
OMIM:617063 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Hydrometro... |
OMIM:617088 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... |
ORPHA:233 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... |
ORPHA:235 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Scoliosis |
OMIM:615284 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Hearing impairment, Short neck, Micrognathia, Cryptorch... |
OMIM:616894 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... |
OMIM:616294 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Hypospadias, Posteriorly rotated ears, Kyphoscoliosis, Coxa valga, Tapered... |
OMIM:301040 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Thoracolumb... |
ORPHA:2437 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Short nec... |
ORPHA:3376 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... |
OMIM:605282 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... |
ORPHA:1319 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruat... |
OMIM:269500 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Short stature, Clinodactyly, Hearing impairment |
OMIM:610023 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Scoliosis, Bif... |
ORPHA:50 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the... |
ORPHA:1507 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Hypospadias, Wide anterior fontanel, Clinodactyly of the 5... |
OMIM:619736 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Mixed hearin... |
ORPHA:51608 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Sensorineural hearing imp... |
OMIM:614230 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Small scrotum, Abnormal dental enamel morphology, Hyperlordosi... |
ORPHA:3253 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Polydacty... |
OMIM:301022 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Up... |
ORPHA:529962 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Aicardi Syndrome |
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Block vertebrae, Missing ribs, Precocious puberty, Hemivertebrae, Rib fusion, Supernumerary ribs,... |
OMIM:304050 |
Bartsocas-Papas Syndrome 1 |
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Short neck, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contractur... |
OMIM:263650 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Micrognathia, Epispadias,... |
OMIM:615948 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine... |
OMIM:605039 |
Autosomal Dominant Robinow Syndrome |
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Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Coxa vara, ... |
ORPHA:3107 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Classic Galactosemia |
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Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Hamamy Syndrome |
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Long toe, Syndactyly, Hypoparathyroidism, Osteopenia, Down-sloping shoulders, Craniosynostosis, T... |
OMIM:611174 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Prominent metopic ridge, Overlapping toe, Single transv... |
OMIM:619148 |
X Small Rings |
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Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Osteop... |
ORPHA:96201 |
Microcephaly-Micromelia Syndrome |
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Micromelia, Absent thumb, Absent radius, Craniosynostosis, Short neck, Humeroradial synostosis, M... |
OMIM:251230 |
Tarp Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... |
ORPHA:2886 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Endocrine-Cerebroosteodysplasia |
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Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T... |
OMIM:612651 |
Multiple Synostoses Syndrome 4 |
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Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Postaxial Acrofacial Dysostosis |
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Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Clinodactyly of the... |
OMIM:616145 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Crypto... |
ORPHA:284160 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Postaxial ... |
OMIM:615986 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
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Mandibular prognathia, Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly ... |
OMIM:618505 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Camptobrachydactyly |
|
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... |
OMIM:114150 |
Tetrasomy 9P |
|
Joint dislocation, Glue ear, Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis... |
ORPHA:3310 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Postnatal growth retardation, Osteoporosis, Scoliosis, Intrauterine growth retardatio... |
ORPHA:2169 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro... |
OMIM:619879 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... |
OMIM:261540 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Macrotia, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:613576 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Short stature, Micrognathia... |
ORPHA:2754 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... |
OMIM:603543 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Micrognathia, Oligozoospermia, Growth delay, A... |
ORPHA:125 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hyp... |
OMIM:180849 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, External genital hypoplasia, Short neck, ... |
ORPHA:96334 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Small scrotum, Short stature, Hearing impairment, Posteriorly ... |
ORPHA:264200 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Micrognathia, Scoliosis, Low-s... |
OMIM:616038 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger synd... |
OMIM:200990 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... |
OMIM:615503 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers... |
ORPHA:93325 |
Ulbright-Hodes Syndrome |
|
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S... |
ORPHA:3404 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Growth delay, Microtia, Camptodactyly, Hearing impairment |
OMIM:616006 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Conductive hearing impairment, Abnormal salivary gland morphology, Abnormal digit m... |
ORPHA:2363 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media |
OMIM:612444 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairmen... |
ORPHA:2753 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Hypospadias, Short stature, Tracheomalacia, Micrognathia, Hypoplasia of t... |
ORPHA:314679 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Persist... |
OMIM:615709 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly, Large earlobe |
OMIM:602501 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... |
OMIM:605432 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... |
ORPHA:90793 |
Bloom Syndrome |
|
Syndactyly, Decreased fertility in females, Postnatal growth retardation, Cryptorchidism, Agenesi... |
OMIM:210900 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of the uterus,... |
ORPHA:84 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Gonadotropin... |
OMIM:615465 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Low-se... |
OMIM:617895 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Hypospadias, Single transverse palmar creas... |
OMIM:223370 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Conductiv... |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Abnor... |
ORPHA:3472 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Hypop... |
OMIM:119500 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Death in infancy |
OMIM:226700 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Scoliosis, Low-set ears, Cu... |
OMIM:104350 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... |
ORPHA:2211 |
Schizophrenia 1 |
|
Syndactyly, Short stature, Short proximal phalanx of the 4th toe, Protruding ear |
OMIM:181510 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Micrognathia, Joint stiffness, Cryptorchid... |
OMIM:618820 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short... |
ORPHA:2308 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Coronal cleft vertebrae, Tal... |
OMIM:620025 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Short stature, Kyphoscoliosis, Hearing impairment, Postnatal growt... |
OMIM:163950 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... |
ORPHA:818 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger... |
OMIM:256520 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... |
ORPHA:2751 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ... |
ORPHA:2473 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, Conductive hearing impairment, Neonatal death... |
OMIM:612289 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Hypospadias, Short stature, Posteriorly rotated ears, Abnormal ... |
OMIM:616975 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Vertebral segmentati... |
ORPHA:2052 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Osteopenia, Mild postnatal growth retardation, Single transverse palmar cr... |
OMIM:150230 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia |
OMIM:605231 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral col... |
ORPHA:228123 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Severe short stature, Death in infancy, Osteopenia, P... |
OMIM:615789 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Abnormality of the... |
ORPHA:1556 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia, Hypoplasia of t... |
OMIM:613717 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Short stature, Supernumerary nipple, Hypoplasia of the maxilla, Carious ... |
OMIM:129400 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Sho... |
OMIM:227650 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Grange Syndrome |
|
Syndactyly, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, P... |
OMIM:309000 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Postaxial polydactyly, Hearing impairment, Postaxial hand ... |
OMIM:209900 |
Vater/Vacterl Association |
|
Syndactyly, Laryngeal stenosis, Hypospadias, Absent radius, Short thumb, Postnatal growth retarda... |
OMIM:192350 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Hypospadias, Single transverse palmar crease, Short thumb, S... |
ORPHA:1708 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Natal tooth, Camptodactyly of finger, Postaxial polydactyly... |
OMIM:249000 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Syndactyly, Clinodactyly, Mandibular prognathia |
OMIM:618087 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing impair... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing impair... |
ORPHA:353277 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... |
OMIM:107480 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... |
OMIM:272950 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... |
OMIM:236700 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Clubbing, Recurrent otitis media, Conductive hearing impair... |
ORPHA:244 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Short stature, Camptodactyly of finger, Diaphyseal thickening, Sensorineural hearin... |
ORPHA:217085 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Short stature, Camptodactyly of finger, Diaphyseal thickening, Sensorineural hearin... |
ORPHA:217093 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Lo... |
OMIM:617667 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Syndactyly, Short stature |
OMIM:615631 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Short neck,... |
ORPHA:1587 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, C... |
OMIM:607932 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Otosclerosis, Short stature, Conductive hearing impairment, Sen... |
ORPHA:580 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Short neck, Simple ear, Mi... |
OMIM:613610 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Digeorge Syndrome |
|
Pilonidal sinus, Short stature, Parathyroid agenesis, Micrognathia, Parathyroid hypoplasia, Hydro... |
OMIM:188400 |
Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... |
ORPHA:1359 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Syndactyly, Hypospadias, Short thumb, Cryptorchidism, Delayed skeletal ... |
OMIM:619488 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Short stature, Hearing impairment, Carious teeth, Pancreatic cysts... |
OMIM:311200 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Patent ductus arteriosus, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Hypo... |
OMIM:309800 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Short stature, Posteriorly rotated ears, Hearing impairment, Postnatal growth retardati... |
OMIM:613355 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Cystocele, K... |
OMIM:613795 |
Craniofacial Microsomia 1 |
|
Ptosis, Block vertebrae, Blepharophimosis, Patent ductus arteriosus, Hemivertebrae, Upper eyelid ... |
OMIM:164210 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Primary amenorrhea, P... |
ORPHA:69085 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Supernumerar... |
ORPHA:1521 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Conductive hearing impairment, Chronic otitis media, Absent outer dynein arms |
OMIM:244400 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Accelerated skeletal maturation, Cr... |
ORPHA:116 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:261537 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Sensorineural hearing impairment, Short stature, Low-set ears |
OMIM:616430 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:2152 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... |
ORPHA:261552 |
Cystinosis, Nephropathic |
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Male infertility, Short stature, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu... |
OMIM:219800 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Grange Syndrome |
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Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Mild postnatal growth retardation |
OMIM:224120 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Syndactyly |
OMIM:614520 |
Adams-Oliver Syndrome 5 |
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Syndactyly, Brachydactyly |
OMIM:616028 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Short stature, Polydactyly, Retrognathia, Hearing impairment |
OMIM:619869 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Syndactyly, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly, Broa... |
OMIM:619534 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Acute Promyelocytic Leukemia |
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Bone pain, Metrorrhagia |
ORPHA:520 |
Acute Promyelocytic Leukemia |
|
|
OMIM:612376 |