Gene: Rara MGI:97856

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
retinoic acid receptor, alpha
Synonyms:
RARalpha1,  RAR alpha 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rara mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rara by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Metrorrhagia, Bone pain ORPHA:520
Acute Promyelocytic Leukemia
OMIM:612376

The table below shows human diseases predicted to be associated to Rara by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Short 3rd metacarpal, Broad thumb, Short toe, Recurrent otitis media... ORPHA:370010
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad thumb, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... OMIM:184460
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Short stature, Brachydactyly, ... ORPHA:1436
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... OMIM:108720
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Anteverted nares, Conductive hearing impairment, Recu... OMIM:157800
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Short statu... OMIM:309620
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Hemihypotrophy of lower limb, Asymmetric short stature, Micrognathia, Fused cer... OMIM:108450
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Penile hypospadias, Superiorly displaced ears, Swan neck-like deformities of... ORPHA:329252
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Low-set ears, Abnormal hip bone morphology, Short stature, H... ORPHA:2522
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Sensorineural hearing impairment, Absent radius, Phocomelia, Micrognathia... ORPHA:3320
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... OMIM:214300
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Conductive hearing impairment, Short 1s... OMIM:135100
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testic... OMIM:614840
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Bulbous nose, Underdeveloped nasal alae, Flexion contracture, Cervical C2/C3 vertebra... OMIM:616549
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Gordon Syndrome
Scoliosis, Camptodactyly of finger, Cryptorchidism, Finger syndactyly, Hearing impairment, Short ... ORPHA:376
Wildervanck Syndrome
Hearing impairment, Fused cervical vertebrae, Abnormality of the outer ear OMIM:314600
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion contracture... OMIM:305620
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage colla... ORPHA:485
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... ORPHA:1826
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Lamb-Shaffer Syndrome
Scoliosis, Hip dysplasia, Thoracic kyphosis, Mild postnatal growth retardation, Broad nasal tip, ... ORPHA:530983
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Hearing impairme... ORPHA:2345
Ring Chromosome 21 Syndrome
Scoliosis, Infertility, Azoospermia, Amenorrhea, Narrow palm, Fused thoracic vertebrae, Thoracic ... ORPHA:1445
Crossed Polysyndactyly
Postaxial hand polydactyly, Finger syndactyly, Abnormality of the outer ear, Aplasia/Hypoplasia o... ORPHA:2935
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia,... ORPHA:294975
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal gro... OMIM:618728
Kbg Syndrome
Scoliosis, Cryptorchidism, Underdeveloped nasal alae, Thoracic kyphosis, Persistent open anterior... ORPHA:2332
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Short stature, Cli... ORPHA:3268
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Gorlin Syndrome
Scoliosis, Cryptorchidism, Epicanthus, Wide nasal bridge, Vertebral fusion, Hemivertebrae, Hypogo... ORPHA:377
Kbg Syndrome
Cryptorchidism, Underdeveloped nasal alae, Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervi... OMIM:148050
Familial Male-Limited Precocious Puberty
Accelerated skeletal maturation, Long penis, Oligospermia, Macroorchidism, Male infertility, Prec... ORPHA:3000
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Prominent nose OMIM:221950
Aarskog-Scott Syndrome
Cryptorchidism, Short neck, Hypoplasia of the maxilla, Genu recurvatum, Joint hyperflexibility, E... ORPHA:915
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Short neck, Arthrogryposis mul... OMIM:178110
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Postaxial hand polyda... ORPHA:2916
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Missing ribs, S... OMIM:613686
Autosomal Recessive Spastic Paraplegia Type 46
Scoliosis, Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm mo... ORPHA:320391
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Conductive hearing impairment, Cervical C2/C3 ver... OMIM:118100
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Hemivertebrae, Vertebral fusi... OMIM:122600
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Abnormality of tibia morphology, Abnormality of femur... ORPHA:1263
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Micro... OMIM:274000
Young Syndrome
Recurrent bronchitis, Decreased fertility, Obstructive azoospermia, Recurrent sinopulmonary infec... ORPHA:3471
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Mosaic Trisomy 20
Scoliosis, Cryptorchidism, Kyphosis, Down-sloping shoulders, Vertebral segmentation defect, Verte... ORPHA:1724
Wildervanck Syndrome
Short neck, Fused cervical vertebrae, Congenital sensorineural hearing impairment ORPHA:3456
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Hyp... ORPHA:90650
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Abnormality of the ribs, Short ... ORPHA:2578
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Anisospondyly, Bowing of the long bones, Wide nasal bridge, Posteriorly rotated e... OMIM:224410
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... OMIM:263540
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Conductive hearing impairment, Short 1st metacarpal, Absent thumb, Shor... OMIM:609053
Apert Syndrome
Delayed eruption of teeth, Anomalous tracheal cartilage, Humeroradial synostosis, Cryptorchidism,... OMIM:101200
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ears, Joint hyperfl... ORPHA:281
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Apert Syndrome
Delayed eruption of teeth, Broad thumb, Ovarian neoplasm, Toe syndactyly, Finger syndactyly, Hypo... ORPHA:87
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Short stature, Kyphoscoliosis... OMIM:600384
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Weaver Syndrome
Scoliosis, Camptodactyly of finger, Cryptorchidism, Accelerated skeletal maturation, Broad thumb,... ORPHA:3447
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Toe syndactyly, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Abnormal form of the vertebral bodies, Finger syndactyly, Atre... ORPHA:3429
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Bul... ORPHA:95699
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Patent ductus arteriosus, Sacral dimple OMIM:618845
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Micropenis OMIM:615983
Frontometaphyseal Dysplasia 2
Scoliosis, Cryptorchidism, Short metatarsal, Congenital hip dislocation, Camptodactyly, Ulnar dev... OMIM:617137
Verheij Syndrome
Scoliosis, Short nose, Growth delay, Wide nasal bridge, Hemivertebrae, Vertebral fusion, Clinodac... OMIM:615583
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... ORPHA:508498
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Low-set ears, Posteriorly rotated ears, Clinodactyly, Syndactyly, Rudimentary pos... OMIM:600325
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Cryptorchidism, Hip dysplasia, Rocker bottom foot, Short neck, Arthrogryposis multiple... OMIM:611890
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
49,Xyyyy Syndrome
Scoliosis, Male hypogonadism, Lop ear, Decreased testicular size, Micrognathia, Large carpal bone... ORPHA:99330
Multiple Epiphyseal Dysplasia Type 5
Abnormal hip joint morphology, Mild short stature, Joint stiffness, Arthralgia of the hip, Hip dy... ORPHA:93311
Duane-Radial Ray Syndrome
Scoliosis, Choanal atresia, Sandal gap, Sensorineural hearing impairment, Absent radius, Spina bi... OMIM:607323
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Disproportionate short stature, Short metatarsal, Breast hypoplasia, Oligospe... OMIM:614813
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Low-set ears, Spina bifida occulta, Short stature, Retrognathia, Fused cervical ... OMIM:619227
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Rhizomelia, Ovoid vertebral bodies, Recurrent... OMIM:608940
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Cryptorchidism, Short neck, Toe syndactyly, Overfolded hel... ORPHA:3409
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Epicanthus, Vertebral fusion, Abnormal cervical curvature... OMIM:312150
Carpenter Syndrome
Genu valgum, Cryptorchidism, Craniosynostosis, Broad thumb, Abnormal reproductive system morpholo... ORPHA:65759
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Finger clinodactyly, Low-set ears, Syndactyly, Short stature... OMIM:616489
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Cryptorchidism, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Clitoral... OMIM:268310
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphr... ORPHA:752
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Low-set, posteriorly ... ORPHA:2343
Thakker-Donnai Syndrome
Bulbous nose, Macrotia, Hemivertebrae, Cervical C2/C3 vertebral fusion, Posteriorly rotated ears,... ORPHA:1780
Keratoconus Posticus Circumscriptus
Short neck, Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation... OMIM:244600
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Cryptorchidism, Short neck, Wide anterior fontanel, Growth delay, P... OMIM:614541
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Epicanthus, Vertebral fusion, Abnormal cervical curvature... OMIM:253290
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Urethral atresia, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vert... OMIM:271520
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Gapo Syndrome
Delayed eruption of teeth, Dysmenorrhea, Abnormal form of the vertebral bodies, Oligospermia, Ame... ORPHA:2067
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar... ORPHA:3269
48,Xyyy Syndrome
Dislocated radial head, Male hypogonadism, Azoospermia, Radioulnar synostosis, Recurrent upper re... ORPHA:99329
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Underdeveloped nasal alae, Overlapping toe, Contracture of the distal interphalan... ORPHA:83617
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Joint hypermobility, Recurrent otitis media, Postnatal growth retardation, Clinodactyl... ORPHA:254531
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Short toe, Bulbous nose, External genital hypoplasia, Postnatal growth retardatio... OMIM:612947
Three M Syndrome 1
Joint hypermobility, Mandibular prognathia, Postnatal growth retardation, Spina bifida occulta, D... OMIM:273750
Maternal Uniparental Disomy Of Chromosome X
Scoliosis, Cubitus valgus, Camptodactyly of finger, Ambiguous genitalia, Azoospermia, Flexion con... ORPHA:261519
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Abnormal vertebral segme... ORPHA:66637
Cornelia De Lange Syndrome 5
Limited elbow extension, Cryptorchidism, Short neck, Toe syndactyly, Anteverted nares, Micropenis... OMIM:300882
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Scoliosis, Abnormal thumb morphology, Finger syndactyly, Wide nasal bridge, Delayed puberty, Sens... ORPHA:1825
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Cryptorchidism, Patent ductus arteriosus, Rib fusion, Hemivertebrae, Verteb... OMIM:206900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Abnormality of the antihelix, Aplasia/Hypoplasia of fingers, Short neck, Postaxia... ORPHA:3082
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Cryptorchidism, Biconcave vertebral bodies, Short ... OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:606612
Acrofrontofacionasal Dysostosis 2
Broad thumb, Hand polydactyly, Bifid scrotum, Overfolded helix, Wide anterior fontanel, Shawl scr... OMIM:239710
Crane-Heise Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Low-set, posteriorly rotated ears, Hypoplastic... ORPHA:1512
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Mild short stature, Joint laxity, Delayed puberty, Cervical spine hype... OMIM:305400
Larsen Syndrome
Scoliosis, Cryptorchidism, Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Laryngo... ORPHA:503
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Conduct... OMIM:171480
Roifman Syndrome
Short toe, Biconvex vertebral bodies, Delayed proximal femoral epiphyseal ossification, Underdeve... ORPHA:353298
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Talipes equinovarus, Short neck, Low-set, posteriorly rotated ears, Rh... OMIM:611209
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Lower lim... OMIM:157900
Arnold-Chiari Malformation Type I
Scoliosis, Adult onset sensorineural hearing impairment, Vertigo, Anteriorly placed odontoid proc... ORPHA:268882
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Cryptorchidism, Nonossified fifth meta... OMIM:304120
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Hyperextensible hand joints, Short nose, Anteverted nares, Proportionate short st... OMIM:227330
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, External genital hypoplasia OMIM:605231
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Hypoplasia of the vagina, Vertebral segm... ORPHA:3109
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Osteoporosis, Decreased female libido, Osteopenia, Ant... ORPHA:91348
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Sensorineural hearing impairm... OMIM:272460
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Cutaneous syndactyly, Underdeveloped nasal alae, Finger clin... OMIM:272440
Young Syndrome
Recurrent bronchitis, Azoospermia, Bronchiectasis, Recurrent sinopulmonary infections, Congenital... OMIM:279000
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Cryptorchidism, Abnormal dental enamel morphology, Short metatar... ORPHA:439822
Wahab Syndrome
Ankylosis, Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Ad... OMIM:615170
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperl... ORPHA:313892
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Bulbous nose, Underdeveloped nasal alae, Blepharophimosis, Joint hyper... ORPHA:96169
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos... OMIM:185900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of ... OMIM:114300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Joint hypermobility, Recurrent otitis media, Postnatal growth retardat... ORPHA:96184
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Pulmonary fibrosis, Flaring of rib cage, Osteopenia, Fuse... OMIM:612852
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Radioulnar synostosis, Abnormal form of the vertebral bodies, Microret... ORPHA:1788
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cubitus valgus, Short neck, Azoospermia ORPHA:2183
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Synostosis of carpal ... ORPHA:1005
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Postnatal growth re... OMIM:618150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Finger syndactyly, Upper limb asymmetry, Aplasi... ORPHA:2141
48,Xxyy Syndrome
Scoliosis, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... ORPHA:10
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Microretrognathia, 2-3 toe syndacty... OMIM:236500
Catel-Manzke Syndrome
Cryptorchidism, Short neck, Joint laxity, Camptodactyly, Ulnar deviation of the 2nd finger, Abnor... OMIM:616145
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphyseal stippling, Wide ant... OMIM:619135
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly OMIM:615982
Osteogenesis Imperfecta, Type Iv
Scoliosis, Wormian bones, Otosclerosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Postaxial Acrofacial Dysostosis
Cryptorchidism, Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Ra... OMIM:263750
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dysplasia, Short ... OMIM:268305
Saethre-Chotzen Syndrome
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow in... ORPHA:794
Ritscher-Schinzel Syndrome 2
Scoliosis, Cryptorchidism, Overlapping toe, Growth delay, Camptodactyly, Short distal phalanx of ... OMIM:300963
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Sensorineural hearing impairment, Micrognathia, Hypoplasia of pro... ORPHA:444077
Caudal Regression Sequence
Scoliosis, Cryptorchidism, Ambiguous genitalia, Pulmonary hypoplasia, Joint stiffness, Abnormal v... ORPHA:3027
Bresek Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Growth delay, Hemivertebrae, Low-set ears,... ORPHA:85284
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Aplasi... ORPHA:2145
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Cryptorchidism, Craniosynostosis, Abnormality of the antihelix, Finger s... ORPHA:178303
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Short nose, Delayed skeletal maturation, Decreased response to growth hormone sti... OMIM:614732
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Brachydactyly, Hypoplastic ischia, Sy... OMIM:617866
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Cryptorchidism, Proportionate short stature, Postnatal growth retar... OMIM:210600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Urethral atresia, Cryptorchidism, Rib fusion, Hemivertebrae, Vertebral fusion, Absent ... ORPHA:94095
Temple Syndrome
Scoliosis, Cryptorchidism, Postnatal growth retardation, Small hand, Short stature, Short foot, C... ORPHA:254516
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Microretrognathia, Low-set, post... ORPHA:2994
Roifman Syndrome
Short toe, Biconvex vertebral bodies, Underdeveloped nasal alae, Recurrent otitis media, Irregula... OMIM:616651
49,Xxxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96264
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Cryptorchidism, Craniosynostosis, Broad thumb, 1-3 toe syndactyl... OMIM:175700
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Toe syndactyly, Aplasia/Hyp... ORPHA:157801
Chromosome 3Pter-P25 Deletion Syndrome
Cryptorchidism, Anteverted nares, Postaxial polydactyly, Sacral dimple, Wide nasal bridge, Low-se... OMIM:613792
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Proximal symphalangism, E... ORPHA:3250
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Abnormality of the stapes, Short distal phalanx of finge... ORPHA:798
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk ... ORPHA:2839
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Mandibular prognathia, Thoracic kyphosis, Ca... OMIM:223800
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Short hallux, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Abnormality of th... ORPHA:3224
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Polydactyly, Postnatal g... ORPHA:397590
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Elbow dislocation, Flared iliac wing, Hypoplastic frontal sinuses, ... ORPHA:90652
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Craniofrontonasal Dysplasia
Scoliosis, Camptodactyly of finger, Craniosynostosis, Hand polydactyly, Finger syndactyly, Joint ... ORPHA:1520
48,Xxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96263
Myhre Syndrome
Cryptorchidism, Mandibular prognathia, Camptodactyly, Birth length less than 3rd percentile, Join... OMIM:139210
Tibial Hemimelia
Cryptorchidism, Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Meta... ORPHA:93322
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Finger syndactyly, Mandibular prognathia, Camptodactyly, Single transverse palmar... ORPHA:435938
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Abnormality of the pinna, Hearing impairment,... OMIM:183600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, ... ORPHA:1106
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Finger syndactyly, Hypoplasia of t... ORPHA:2256
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Scoliosis, Cryptorchidism, Slender nose, Short nose, Macrotia, Postnatal growth retardation, Low-... OMIM:615419
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Low-set, posteri... ORPHA:1786
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Cryptorchidism, Abnormal m... ORPHA:2311
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chromosome 8Q21.11 Deletion Syndrome
Short neck, Camptodactyly, Wide nasal bridge, Low-set ears, Sensorineural hearing impairment, Pro... OMIM:614230
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Low-set, posteriorly rotated ears, Bilateral... ORPHA:2377
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsa... OMIM:101800
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Hemivertebrae, Bicornuate uterus, Short neck, Micrognathia, Hypoplasia of ... ORPHA:958
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Camptodactyly of finger, Hyperlordosis, Synostosis of carpal bones, Finger syndactyly,... ORPHA:1323
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Low-set ears, Testicular atrophy, Pulmonary hypoplasia, Syndactyly, Decreased sku... OMIM:601163
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choana... OMIM:146510
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Azoospermia, Aplasia of the ... ORPHA:90797
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Hemivertebrae, Wide nasal bridge, Syndactyly, Short stature, Brachydactyly, Vertebral clefting OMIM:614701
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Low-set, posteriorly rotated ears, Postnatal growth retardation, Clinodactyly, Small ... ORPHA:254525
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Lethal short-limbed short stature, Metaphyseal irregularity, Hypoplastic ilia, Sho... OMIM:187601
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Proportionate short stature, Short distal phalanx o... ORPHA:79345
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Arthrogryposis, Distal, Type 2A
Scoliosis, Cryptorchidism, Restricted neck movement due to contractures, Underdeveloped nasal ala... OMIM:193700
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Short neck, Bulbous nose, Abnormal form of the vertebral bodies,... ORPHA:1787
Robinow Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Hemivertebrae, Clitoral hypoplasia, Short distal p... ORPHA:97360
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Delayed pubert... ORPHA:1772
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Nevus Comedonicus Syndrome
Scoliosis, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxial polydactyly... ORPHA:64754
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Overfolded helix, Thoracic kyphosis, Low-set ears, Clinodactyly, Syndactyly, Retrognathia, Arachn... OMIM:619092
Koolen-De Vries Syndrome
Pear-shaped nose, Scoliosis, Joint hypermobility, Cryptorchidism, Bulbous nose, Blepharophimosis,... OMIM:610443
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Abnormality of epiphysis morphology, Finger syndactyly, Low-set ears, Clinodactyly, ... ORPHA:166024
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Short phalanx of finger, Finger syndactyly, Atresia of the external au... OMIM:264475
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Cryptorchidism, Overlapping fingers, Cutaneous syndactyly, Overlapping toe, Wide nasal... OMIM:618316
Marden-Walker Syndrome
Scoliosis, Cryptorchidism, Talipes equinovarus, Short neck, Radioulnar synostosis, Wide anterior ... OMIM:248700
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Micrognathia, Depressed nasal bridge, Hypopla... OMIM:252100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Short phalanx of finger, Hypergonadotropic hypogonadism, Abnormal hand morphology, L... OMIM:300845
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Abnormal vagina morphology, Abnormal appendicular skeleton morphology,... ORPHA:813
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
9Q21.13 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Craniosynostosis, Polydactyly, Postnatal growth retarda... ORPHA:531151
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Broad thumb, Dental malocclusion, Broad hallux, Syndactyly, R... OMIM:613684
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Kyphosis, Radial deviation of finger, Clinodactyly, Syndactyly OMIM:300337
Pfeiffer Syndrome
Hyperlordosis, Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Mandibu... ORPHA:710
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Decreased testicular size, Hypoplasia of the uterus, Primary amenorr... OMIM:614837
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiec... OMIM:618801
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Urethral valve, Short middle phalanx of the 5th finger, T... OMIM:180860
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Absent central microtu... OMIM:617091
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormality of the vertebral column, Hypoplasia of the uterus, Bicornuate uterus, Ab... OMIM:601076
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Orbital cyst, Short ribs, Wide nasal bridge, Hem... OMIM:109400
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Abnormality of toe, Microphallus, Abnormal thumb morphology, Joint lax... ORPHA:94065
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvi... OMIM:215140
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Joint laxity, Postnatal growth retardation, Flat acetabular... OMIM:615777
Van Maldergem Syndrome 2
Scoliosis, Cryptorchidism, Joint laxity, Atresia of the external auditory canal, Sensorineural he... OMIM:615546
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Bilateral breast hypoplasia, Subglottic stenosis, Lumbar scoliosis, Madelung defor... ORPHA:319675
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Short nose, Toe syndactyly, Growt... OMIM:206920
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Preaxial hand polydactyly, Broad thumb, Mandibular prognathia, Abnormality of t... OMIM:101120
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Sanjad-Sakati Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Delayed ske... ORPHA:2323
Roberts Syndrome
Cryptorchidism, Craniosynostosis, Underdeveloped nasal alae, Postnatal growth retardation, Bilate... ORPHA:3103
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Short neck, Short nose, Wide anterior fontanel, Laryngeal hypoplasia, Abnormality... OMIM:217980
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, C1-C2 vertebral abnormality, Preaxial hand polydactyly, Cho... ORPHA:96179
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Pr... OMIM:210720
Hemochromatosis, Type 2A
Infertility, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism, Arthritis OMIM:602390
Bardet-Biedl Syndrome
Cryptorchidism, Postaxial hand polydactyly, Finger syndactyly, Low-set, posteriorly rotated ears,... ORPHA:110
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal ... ORPHA:2378
Congenital Heart Defects And Ectodermal Dysplasia
Scoliosis, Broad thumb, Syndactyly, Prominent nasal bridge, Depressed nasal bridge OMIM:617364
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Cryptorchidism, Ambiguous genitalia, Toe syndactyly, Bifid scrotum, Finger syndactyly,... ORPHA:1300
Brachydactyly Type B
Finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Synostosis of carpal bones, Broad ha... ORPHA:93383
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Postaxial hand polydactyly, Craniosynostosis, Broad thumb, Preax... ORPHA:380
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimuation test, Hemivertebrae, Low-set ears, Syndactyly, In... OMIM:220210
Poland Syndrome
Hypoplasia of deltoid muscle, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Unilateral oli... OMIM:173800
Cri-Du-Chat Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Microretrognathia, Growth delay, Abnormality of the ... OMIM:123450
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Scrotal hypoplasia, Clitoral hypoplasia, Delayed pubert... OMIM:176270
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Cryptorchidism, Craniosynostosis, Short neck, Toe syndactyly, Scrotal hy... OMIM:609625
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Scoliosis, Clinodactyly, Syndactyly, Flexion contracture OMIM:619091
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Short stature, Spina bifida occulta, Micrognathia, Narrow nasal br... ORPHA:1514
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Cryptorchidism, Glandular hypospadias, Breast hypoplasia, Growth dela... ORPHA:1439
Filippi Syndrome
Cryptorchidism, Underdeveloped nasal alae, Enlarged epiphyses, Finger syndactyly, Growth delay, S... ORPHA:3255
19P13.12 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Sandal gap, Sens... ORPHA:254346
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Triphalangeal thumb, Osteoporosis, Ap... ORPHA:2232
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Simpson-Golabi-Behmel Syndrome
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Broad thumb, Congenital hip dislocati... ORPHA:373
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Charlie M Syndrome
Finger syndactyly, Micrognathia, Macrotia, Split hand, Wide nasal bridge, Abnormality of the meta... ORPHA:1406
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Preaxial h... ORPHA:887
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Delayed puberty, Hypogonadotropic hypogonadism, Precoc... OMIM:300200
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Hypoplastic ilia, Short greater scia... OMIM:187600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Sandal gap, Brachydactyly, Syndactyly, Short stature, Short neck, S... OMIM:614800
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Scrotal hypoplasia, Spina bifida o... ORPHA:2990
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Agenesis of maxillary lateral incisor, Azoospermi... OMIM:210900
Summitt Syndrome
Craniosynostosis, Syndactyly OMIM:272350
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Delayed skeletal maturation, Postnatal growth retardatio... ORPHA:73272
3C Syndrome
Scoliosis, Short neck, Short nose, Hand polydactyly, Finger syndactyly, Kyphosis, Death in infanc... ORPHA:7
3Mc Syndrome
Scoliosis, Hyperlordosis, Craniosynostosis, Radioulnar synostosis, Bilateral cryptorchidism, Abno... ORPHA:293843
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Joint laxity, Elbow dislocation, Atresia of the external au... OMIM:224690
Warburg Micro Syndrome 3
Short nose, Macrotia, Scrotal hypoplasia, Flexion contracture, Ankle clonus, Postnatal growth ret... OMIM:614222
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Polydactyly, Natal tooth, Scrotal hypoplasia, Postaxial polydactyly, Sandal gap, ... OMIM:612651
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Abnormal axo... OMIM:613807
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Ciliary Dyskinesia, Primary, 9
Male infertility, Recurrent sinusitis, Pneumonia, Bronchiectasis OMIM:612444
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Recurrent sinusitis, Immotile sperm, Male infertility, Chronic bronchitis OMIM:614874
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... OMIM:614188
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... ORPHA:93324
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Split hand, Metatarsus adductus, Sensorineural hearing impairment, Ste... OMIM:194190
Opitz-Kaveggia Syndrome
Cryptorchidism, Delayed closure of the anterior fontanelle, Broad thumb, Split hand, Camptodactyl... OMIM:305450
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Syndactyly OMIM:615284
Myotonic Dystrophy 2
Hypogonadism, Oligospermia OMIM:602668
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Short nose, Bulbous nose, Macrotia, Mandibular prognathia, Camptodactyly, Wide na... ORPHA:369891
3Mc Syndrome 2
Cryptorchidism, Prominence of the premaxilla, Craniosynostosis, Joint hypermobility, Radioulnar s... OMIM:265050
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Penile hypospadias, Short 5th finger, Generalized bone demineralization, Abn... ORPHA:73230
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Scrotal hypoplasia, Metatarsus add... ORPHA:2215
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Postnatal growth retardation, Increased susceptibility to fractures,... ORPHA:251028
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Stap... ORPHA:51608
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Recurrent fractures, Osteopenia, Hearing impair... OMIM:166200
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Chordee, Choanal atresia, Sensorineural hearing impairment, Micrognathia, Elbow f... OMIM:151050
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Postnatal growth retardation, Hemivertebrae, Sensorineural hearing impairment, Mi... OMIM:301040
Cohen Syndrome
Scoliosis, Cryptorchidism, Sandal gap, Delayed puberty, Sensorineural hearing impairment, Slender... ORPHA:193
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Mandibular prognathia, Choanal atre... ORPHA:2658
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Toe syndactyly, Congenital hip dislocation, Underdeveloped nasal alae, Bifid scro... ORPHA:217346
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Laryngomalacia, Low-set ears, Protruding ear, ... ORPHA:73246
Trisomy 20P
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Short neck, Micrognathia, Preaxial hand ... ORPHA:261318
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Small earlobe, Asymmetry of the ears, Bulbous nose, Mandibular prognathia, Campto... ORPHA:3063
Summitt Syndrome
Genu valgum, Camptodactyly of finger, Craniosynostosis, Short 4th metacarpal, Finger syndactyly, ... ORPHA:3210
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
Oliver Syndrome
Scoliosis, Camptodactyly of finger, Small earlobe, Postaxial hand polydactyly, Supernumerary nipp... ORPHA:2920
Hamamy Syndrome
Hip dysplasia, Cryptorchidism, Craniosynostosis, Hypoparathyroidism, Down-sloping shoulders, Abno... OMIM:611174
2Q31.1 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Abnormality of tibia morphology, Bulbous nose, Broad hallux phalanx, S... ORPHA:251014
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Elbow dislocation, Finger syndactyly, Vaginal fistula, Hemivertebrae, Persistent ... ORPHA:1112
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, S... ORPHA:2492
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Cryptorchidism, Broad thumb, Short phalanx of finger, Camptodactyly, Clitoral hypoplas... OMIM:616894
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Hypoplastic helices, 1-2 finger syndactyly, Low-set, posteriorly rotated e... ORPHA:2437
Duane Retraction Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Preaxial hand polydactyly, Short neck, Narrow inte... ORPHA:233
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Sweeney-Cox Syndrome
Wide anterior fontanel, Underdeveloped nasal alae, Overfolded helix, Choanal atresia, Bilateral c... OMIM:617746
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Carious teeth, Short nose, Underdeveloped nasal alae, Bifid scrotum, Macrotia, Ov... OMIM:613026
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Camptodactyly, Micrognathia, Dislocated radial head, Deep palmar crease,... OMIM:605039
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Patent du... ORPHA:251066
Mosaic Trisomy 1
Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, Micropenis, Thoracic ... ORPHA:1692
Bartsocas-Papas Syndrome
Ambiguous genitalia, Toe syndactyly, Short nose, Underdeveloped nasal alae, Synostosis of joints,... ORPHA:1234
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand OMIM:225280
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Decreased response to growth hormone stimuation test, Postnatal growth retardatio... OMIM:241410
Ogden Syndrome
Scoliosis, Cryptorchidism, Underdeveloped nasal alae, Macrotia, Microretrognathia, Postnatal grow... ORPHA:276432
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Septate vagina, Aplasia/Hypoplasia of... ORPHA:1319
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Toe syndactyly, Macrotia, Finger... ORPHA:3253
Aromatase Deficiency
Osteoporosis, Genu valgum, Cryptorchidism, Hypergonadotropic hypogonadism, Growth delay, Bone pai... ORPHA:91
Holt-Oram Syndrome
Scoliosis, Anomalous pulmonary venous return, Broad thumb, Radioulnar synostosis, Finger syndacty... ORPHA:392
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Avascular necrosis, Hypogonadism ORPHA:91351
X Small Rings
Osteoporosis, Upper limb undergrowth, Toe syndactyly, Joint laxity, Growth delay, 2-3 toe syndact... ORPHA:96201
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Recurrent upper respiratory tract ... OMIM:253220
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Radioulnar synostosis, Short metatarsal, Hitchhiker thumb, Carpal ... OMIM:605282
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Preaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Postnatal... ORPHA:235
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Hemivertebrae, Sparse lateral eyebrow, Missing ribs, Recurrent... OMIM:304050
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Trichorhinophalangeal Syndrome, Type Ii
Scoliosis, Joint hypermobility, Scapular winging, Bulbous nose, Recurrent upper respiratory tract... OMIM:150230
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phal... ORPHA:536467
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Scoliosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed skeletal maturatio... ORPHA:96182
Orofaciodigital Syndrome Type 14
Postaxial hand polydactyly, Deviation of the hallux, Bulbous nose, Microretrognathia, Low-set, po... ORPHA:434179
Acrocallosal Syndrome
Cryptorchidism, Hypoplasia of teeth, Postnatal growth retardation, Rectovaginal fistula, Micropen... OMIM:200990
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Autosomal Dominant Robinow Syndrome
Scoliosis, Cryptorchidism, Elbow dislocation, Hemivertebrae, Clitoral hypoplasia, Epispadias, Mic... ORPHA:3107
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Narrow il... OMIM:616294
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Neonatal death, Syndactyly, Microgna... OMIM:228940
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Acrocardiofacial Syndrome
Camptodactyly of finger, Cryptorchidism, Toe syndactyly, Finger syndactyly, Split hand, Death in ... ORPHA:2008
17Q12 Microduplication Syndrome
Toe syndactyly, Tracheoesophageal fistula, Abnormal vertebral morphology, Finger syndactyly ORPHA:261272
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Tracheal calcification, Punctate vertebral calcifications, Epiphyseal stippling, Polyd... OMIM:302960
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Growth delay, Delayed skeletal maturation, Pitui... ORPHA:1435
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Short nose, Osteopenia, Abnormality of the pinna, Postnatal growth reta... OMIM:612394
17Q24.2 Microdeletion Syndrome
Scoliosis, Cubitus valgus, Otosclerosis, Upper limb undergrowth, Short neck, Broad thumb, Abnorma... ORPHA:529962
Rubinstein-Taybi Syndrome
Hip dysplasia, Cryptorchidism, Carious teeth, Broad thumb, Finger syndactyly, Joint hyperflexibil... ORPHA:783
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Camptodactyly, Choanal atresia, Short thumb, Micrognathia, Small thenar eminence,... OMIM:619148
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Hearing impairment, Syndactyly, Short stature, Brachydactyly OMIM:610023
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Short middle phalanx of toe, Finger syndactyly,... OMIM:101600
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Underdeveloped nasal alae, Finger syndactyly, Joint hyperflexibility, Wide nasal ... ORPHA:1252
Triploidy
Cryptorchidism, Ambiguous genitalia, Short neck, Finger syndactyly, Low-set, posteriorly rotated ... ORPHA:3376
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Neonatal death, Pulmonary ... OMIM:253310
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Growth delay, Camptodactyly, Hearing impairment, Syndactyly, Pulmonary lymphangiect... OMIM:616006
Aicardi Syndrome
Scoliosis, Bifid ribs, Rib fusion, Sparse lateral eyebrow, Block vertebrae, Supernumerary ribs, M... ORPHA:50
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Scoliosis, Joint hypermobility, Postnatal growth retardation, Brachydactyly, S... OMIM:619184
Acromelic Frontonasal Dysostosis
Cryptorchidism, Polydactyly, Midline defect of the nose, Preaxial polydactyly, Hypopituitarism, W... OMIM:603671
Orofaciodigital Syndrome Xiv
Cryptorchidism, Microretrognathia, Natal tooth, Preaxial polydactyly, Abnormality of the pinna, P... OMIM:615948
White Forelock With Malformations
Finger syndactyly, Low-set, posteriorly rotated ears, Joint hyperflexibility, Spina bifida occult... ORPHA:2475
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Microphthalmia, Lenz Type
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Camptodactyly of finger, Cryptorchidism, Fin... ORPHA:568
Autosomal Recessive Robinow Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Elbow dislocation, Split hand, Broad hallux phalanx, Deat... ORPHA:1507
Tetrasomy 9P
Cryptorchidism, Abnormal dental enamel morphology, Bulbous nose, Bilateral single transverse palm... ORPHA:3310
Classic Galactosemia
Osteoporosis, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea,... ORPHA:79239
Bloom Syndrome
Male infertility, Respiratory tract infection, Azoospermia, Oligospermia, Growth delay, Pneumonia... ORPHA:125
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Elevated circulating luteinizing hormone level, Ambiguous genita... ORPHA:90793
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Hypoplasia of the epiglottis, Syndactyly, Short stature, Broad nasal ti... OMIM:300484
2Q37 Microdeletion Syndrome
Short neck, Toe syndactyly, Underdeveloped nasal alae, Finger syndactyly, Conductive hearing impa... ORPHA:1001
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Diphallia
Scoliosis, Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Hemivertebrae, Ectopic scrot... ORPHA:227
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Bicornuat... OMIM:263650
Fg Syndrome Type 1