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:
RAR alpha 1,  RARalpha1

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
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
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 17
Male infertility OMIM:617214
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Moderate hearing impairment, Short thumb, Osseous finger syndacty... ORPHA:370010
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Short stature, Short middle phalan... ORPHA:1436
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... OMIM:113000
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Congenital stape... OMIM:184460
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Short neck, Abnormal hip bone morphology, Kyphosis, Short stature, Micrognathia, Fu... ORPHA:2522
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Short stature, Short middle phalanx o... OMIM:309620
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Patellar dislocation, Broad thumb, Fibular aplasia, Aplasia/Hypoplasi... ORPHA:3320
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Laryngeal stenosis, Knee dislocation, Multinucleated gian... OMIM:108720
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Short neck, Abnormal pinna morphology, Fused cervical v... OMIM:214300
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Joint stiffness, Short thumb, Short metatarsal, Genu recurvatum, Laryngeal stenosi... OMIM:151200
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Talipes equinovarus, F... OMIM:618469
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Pto... ORPHA:2064
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Hypogona... OMIM:614840
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Gordon Syndrome
Camptodactyly of finger, Scoliosis, Cryptorchidism, Finger syndactyly, Short stature, Hearing imp... ORPHA:376
Fibrodysplasia Ossificans Progressiva
Scoliosis, Hallux valgus, Conductive hearing impairment, Abnormality of the first metatarsal bone... OMIM:135100
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Wildervanck Syndrome
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment OMIM:314600
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Low-set ears, Short neck, Thoracolumbar scoliosis, Short stature, Micrognath... OMIM:616549
Kniest Dysplasia
Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Hearing impairment, ... ORPHA:485
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Hypoplastic nipples, Rocker bottom foot, Intercrural pterygium, Popli... OMIM:265000
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Conductive hearing impairment, Aplasia/Hyp... ORPHA:3246
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Hip dislocation, Generalized joint laxity, Hallux valgus, Short neck, Osteoporosi... OMIM:618000
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Hearing impairment, Carpal s... OMIM:305620
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Cryptorchidism, Micropenis, Ambiguous genitalia, Flat acetabular roof, Wormian bone... OMIM:617159
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Syndactyly, Short statu... ORPHA:1445
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Hip dysplasia, Micrognathia, Fused cervical vertebrae, Mild postnat... ORPHA:530983
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Hearing i... ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... OMIM:277300
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Cryptorchidism, Retrognathia, Low-set ears, Short neck, Posteriorly rotated ears, ... OMIM:618393
Frontometaphyseal Dysplasia
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Short metatarsal, Metacarpoph... ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Lower-limb metaphyseal irregularity, Severe short stature, Genu varum, Irregular femor... OMIM:618728
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the elbow, Finger syndactyly, Short stature, Radioulnar synostosis, Del... ORPHA:3268
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Low-set ears, Intrauterine growth retardation, Short stature, Growth delay, Cervic... OMIM:617333
Spermatogenic Failure 77
Cryptorchidism, Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagel... OMIM:620103
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Mandibular prognathia, Abnormal antihe... ORPHA:2916
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Aarskog-Scott Syndrome
Single transverse palmar crease, Camptodactyly of finger, Cryptorchidism, Shawl scrotum, Low-set,... ORPHA:915
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Conductive hearing impairment, Short neck, Abnormality of limb bone morphology, Mixed ... OMIM:118100
Multiple Synostoses Syndrome 1
Stapes ankylosis, Lower limb undergrowth, Carpal synostosis, Absent distal phalanges, Progressive... OMIM:186500
Gorlin Syndrome
Telecanthus, Scoliosis, Vertebral fusion, Cryptorchidism, Epicanthus, Vertebral wedging, Hemivert... ORPHA:377
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Mosaic Trisomy 20
Clinodactyly, Down-sloping shoulders, Scoliosis, Vertebral fusion, Limited pronation/supination o... ORPHA:1724
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Apert Syndrome
Chronic otitis media, Hearing impairment, Broad thumb, Vaginal atresia, Preaxial hand polydactyly... OMIM:101200
Wildervanck Syndrome
Fused cervical vertebrae, Congenital sensorineural hearing impairment, Short neck ORPHA:3456
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the vertebral column, Abnormal hip bone morphology, Syndactyly, Upper... ORPHA:294975
Deafness-Hypogonadism Syndrome
Delayed puberty, Conductive hearing impairment, Abnormality of the internal auditory canal, Abnor... ORPHA:90646
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Familial Peripheral Male-Limited Precocious Puberty
Accelerated skeletal maturation, Male infertility, Long penis, Macroorchidism, Oligospermia, Prec... ORPHA:3000
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Scoliosis, ... ORPHA:320391
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the ut... ORPHA:2578
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Shashi-Pena Syndrome
Low-set ears, Scoliosis, Retrognathia, Osteoporosis, Posteriorly rotated ears, Intrauterine growt... OMIM:617190
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Cryptorchidism, Lumbar hyperlordosis, Lumbar scoliosis, Scapular winging, Bilateral... OMIM:617796
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Conductive hearing impairment, Short thumb, Short neck, Intrauterine growth... OMIM:609053
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Monosomy 5P
Low-set, posteriorly rotated ears, Scoliosis, Abnormality of bone mineral density, Short neck, Fi... ORPHA:281
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Cryptorchidism, Bilateral talipes equinovarus, Fle... ORPHA:319332
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Syndactyly, Short stature, Cutaneous ... OMIM:600384
Boomerang Dysplasia
Cryptorchidism, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... ORPHA:1263
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Protruding ear, Vertebral wedging, Biconvex vertebral ... ORPHA:93315
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... OMIM:274000
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... ORPHA:90650
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Delayed proximal femoral epiphyseal ossification, Abnormal acetabulum morphology, ... ORPHA:93311
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Downslanted palpebral f... OMIM:178110
Weaver Syndrome
Camptodactyly of finger, Scoliosis, Retrognathia, Joint stiffness, Cryptorchidism, Abnormal metap... ORPHA:3447
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Bardet-Biedl Syndrome 5
Micropenis, Polydactyly, External genital hypoplasia, Hypogonadism, Syndactyly, Brachydactyly OMIM:615983
Acropectorovertebral Dysplasia
Short thumb, Radial deviation of the 2nd finger, Finger syndactyly, Synostosis of carpal bones, T... OMIM:102510
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Low-set ears, Cryptorchidism, Short thumb, Posteriorl... OMIM:600325
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala... OMIM:185800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Generalized joint laxity, Abnormality of the hand, Hearing impairment, Hypermobi... ORPHA:508498
49,Xyyyy Syndrome
Decreased testicular size, Scoliosis, Low-set, posteriorly rotated ears, Generalized joint laxity... ORPHA:99330
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Short stature, Cutaneous syndactyly, Delayed epiphyseal ossification, Enla... ORPHA:166024
Frontometaphyseal Dysplasia 2
Delayed puberty, Scoliosis, Short metatarsal, Broad thumb, Subglottic stenosis, Camptodactyly, Cr... OMIM:617137
Apert Syndrome
Conductive hearing impairment, Mandibular prognathia, Finger syndactyly, Aplasia/Hypoplasia of th... ORPHA:87
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Low-set ears, Scoliosis, Retrognathia, Cryptorchidism, Hip dyspl... OMIM:611890
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Duane-Radial Ray Syndrome
Scoliosis, Short thumb, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia of the radi... OMIM:607323
Carpenter Syndrome
Craniosynostosis, Cryptorchidism, External genital hypoplasia, Polydactyly, Finger syndactyly, Sy... ORPHA:65759
Diaphanospondylodysostosis
Missing ribs, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Ovoid vertebral bodies, Metaphyseal cupping, Metaphysea... OMIM:608940
Sillence Syndrome
Scoliosis, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabular roof, Lar... ORPHA:3168
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Delayed puberty, Scoliosis, Increased size of the clitoris, Abnormal metacarpoph... ORPHA:95699
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Keratoconus Posticus Circumscriptus
Short neck, Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vert... OMIM:244600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Stapes ankylosis, Syndactyly, Short stature, Clinodactyly of the 5th finger, Hemive... OMIM:614701
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Cryptorchidism, Hypogonadism, Short neck, Flexion contracture of toe, Ab... ORPHA:3409
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Cryptorchidism, Abnormality of the parathyroid gland, Finger syndactyly, Atresia of... ORPHA:3429
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Butterfly vertebrae, Retrognathia, Short stature, Spina bifida occulta, Fused cervi... OMIM:619227
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Intrauterine growth retardation, Recurrent otitis media, Small hand, Micrognathia, Cli... ORPHA:254531
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Chromosome 16Q22 Deletion Syndrome
Single transverse palmar crease, Low-set ears, Prominent metopic ridge, Cryptorchidism, Hip dyspl... OMIM:614541
Chromosome 16P13.3 Duplication Syndrome
Hip dislocation, Short thumb, Proximal placement of thumb, Protruding ear, Rocker bottom foot, Lo... OMIM:613458
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Multiple Pterygium Syndrome, X-Linked
Epicanthus, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multiple... OMIM:312150
Cardiospondylocarpofacial Syndrome
Scoliosis, Carpal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Brachydactyly, ... OMIM:157800
Verheij Syndrome
Scoliosis, Hip dislocation, Retrognathia, Vertebral fusion, Short neck, Intrauterine growth retar... OMIM:615583
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Aplasia/Hypoplasia involving the metacarpal bones, Bro... OMIM:268310
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Thakker-Donnai Syndrome
Short neck, Posteriorly rotated ears, Intrauterine growth retardation, Hemivertebrae, Macrotia, C... ORPHA:1780
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... OMIM:128980
Multiple Pterygium Syndrome, Lethal Type
Epicanthus, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multiple... OMIM:253290
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Vertebral fusion, Lumbar hyperlordosis, Butterfly vertebrae, Thoracic kyphoscoliosis, ... ORPHA:313892
Aarskog-Scott Syndrome
Delayed puberty, Scoliosis, Elevated circulating follicle stimulating hormone level, Short 5th fi... OMIM:305400
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Conductive hearing impairment, Anterior vertebral fus... OMIM:171480
Silver-Russell Syndrome 3
Low-set ears, Retrognathia, Penoscrotal hypospadias, Ambiguous genitalia, Syndactyly, Short statu... OMIM:616489
Three M Syndrome 1
Decreased testicular size, Hip dislocation, Hypoplastic pelvis, Short neck, Increased vertebral h... OMIM:273750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Single transverse palmar crease, Coronal craniosynostosis, Cryptorchidism,... ORPHA:83617
48,Xyyy Syndrome
Epicanthus, Short neck, Dislocated radial head, Azoospermia, Radioulnar synostosis, Male hypogona... ORPHA:99329
Chops Syndrome
Tracheomalacia, Cryptorchidism, Thickened helices, Short stature, Hearing impairment, Cervical C2... OMIM:616368
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Toe syndactyly, Single transverse palmar crease, Unilater... OMIM:206920
Cornelia De Lange Syndrome 5
Limited elbow extension, Decreased testicular size, Cryptorchidism, Retrognathia, Micropenis, Hyp... OMIM:300882
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Carpal synostosis, Bowed humerus, Delayed skeletal maturation, Brachydactyly, Coxa var... OMIM:272460
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... OMIM:271520
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Scoliosis, Ambiguous genitalia, Short neck, Azoospermia, Gonadal tissue ... ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Kyphosis, Elbow contracture, Achilles tendon contracture, Hyperlordosis OMIM:606612
Larsen Syndrome
Craniosynostosis, Short distal phalanx of finger, Scoliosis, Cryptorchidism, Conductive hearing i... ORPHA:503
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:615842
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Scoliosis, Single transverse palmar crease, Cutaneous finger syndactyly,... OMIM:114300
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Scoliosis, Proximal placement of thumb, Abnormal thumb morphology, Abnormality o... ORPHA:1825
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Cutis Laxa, Autosomal Recessive, Type Iie
Craniosynostosis, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Genu varum, Ovoid vertebral b... OMIM:619451
Gapo Syndrome
Dysmenorrhea, Low-set ears, Abnormal metaphysis morphology, Hypogonadism, Mandibular prognathia, ... ORPHA:2067
Arnold-Chiari Malformation Type I
Stiff neck, Scoliosis, Tinnitus, Functional abnormality of the inner ear, Fused cervical vertebra... ORPHA:268882
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral fusion, Aplasia of the uterus, Abnormal form of the vertebr... ORPHA:3109
Larsen Syndrome
Spondylolysis, Scoliosis, Hip dislocation, Short metatarsal, Hearing impairment, Knee dislocation... OMIM:150250
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Rhizomelia, Short metatarsal, Clitoral hypoplasia, Hypoplastic pe... OMIM:614813
Wahab Syndrome
Camptodactyly, Short thumb, Syndactyly, Ankylosis, Short metacarpal, Adducted thumb, Short palm, ... OMIM:615170
Crane-Heise Syndrome
Short distal phalanx of finger, Cryptorchidism, Low-set, posteriorly rotated ears, Joint stiffnes... ORPHA:1512
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Cubitus valgus, Short neck ORPHA:2183
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Moebius Syndrome
Clinodactyly, Camptodactyly, Decreased testicular size, Micropenis, Short neck, Abnormal pinna mo... OMIM:157900
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... OMIM:185900
Kbg Syndrome
Single transverse palmar crease, Cryptorchidism, Vertebral fusion, Thoracic kyphosis, Protruding ... OMIM:148050
Acrofrontofacionasal Dysostosis 2
Low-set ears, Shawl scrotum, Hand polydactyly, Wide anterior fontanel, Posteriorly rotated ears, ... OMIM:239710
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Polydactyly, Hypogonadism, Syndactyly, Brachydactyly OMIM:615982
Faciodigitogenital Syndrome, Autosomal Recessive
Down-sloping shoulders, Camptodactyly, Cryptorchidism, Vertebral fusion, Hyperextensible hand joi... OMIM:227330
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, Missing ribs, Hemiv... OMIM:613686
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Protruding ear, Short tibia, Short 5th... OMIM:268305
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Cryptorchidism, Short neck, Downslanted palpebral fissures, Kyphosis... OMIM:130720
Elsahy-Waters Syndrome
Low-set ears, Penoscrotal hypospadias, Posteriorly rotated ears, Mandibular prognathia, Multiple ... OMIM:211380
48,Xxyy Syndrome
Chronic otitis media, Decreased testicular size, Scoliosis, Cryptorchidism, Hip dysplasia, Taurod... ORPHA:10
Roifman Syndrome
Epiphyseal dysplasia, Intrauterine growth retardation, Short stature, Irregular capital femoral e... ORPHA:353298
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Hearing impairment, Short toe, Accelerated skeletal maturation, Short phalanx o... ORPHA:439822
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Scoliosis, Mesomelic short stature, Bilateral single transverse palmar c... ORPHA:2633
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Short first metatarsal, Poorly ossified vertebrae, Wide anterior fontanel, Death ... OMIM:619135
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Hip dislocation, Joint stiffness, Severe short stat... ORPHA:1005
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Aplasia/Hypoplasia of the radius, Finger syndactyly, Intrauterine growth retar... ORPHA:1788
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Osteopenia, Osteomyelitis, Fused cervical vertebrae OMIM:612852
Koolen-De Vries Syndrome
Scoliosis, Hip dislocation, Vertebral fusion, Cryptorchidism, Epicanthus, Kyphosis, Upslanted pal... ORPHA:96169
Stuve-Wiedemann Syndrome 2
Camptodactyly, Scoliosis, Death in adolescence, Intrauterine growth retardation, Neonatal death, ... OMIM:619751
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Temple Syndrome
Scoliosis, Cryptorchidism, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:254516
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Scoliosis, Kyphosis, Wormian bones, Short stature, Biconcave flatte... OMIM:166220
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Scoliosis, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syn... ORPHA:88630
47,Xyy Syndrome
Low-set ears, Cryptorchidism, Micropenis, Varicocele, Finger clinodactyly, Azoospermia, Increased... ORPHA:8
Bresek Syndrome
Decreased testicular size, Scoliosis, Cryptorchidism, Low-set ears, Protruding ear, Intrauterine ... ORPHA:85284
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Intrauterine growth retardation, Short stature, Recurrent otitis media... ORPHA:96184
Alkaptonuria
Low back pain, Vertebral fusion, Arthropathy, Limited shoulder movement, Kyphosis, Arthritis, Lim... OMIM:203500
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Lumbar hyperlordosis, Short neck, Disproportionate short-trunk short stature, Kyphosis... OMIM:313400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Craniosynostosis, Low-set ears, Cryptorchidism, Micropenis, Intrauterine growth retardation, Decr... OMIM:614732
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hearing impairment, Cupped ear, Subglottic stenosis, Brachydactyly, Low-set, posteriorly rotated ... ORPHA:444077
Postaxial Acrofacial Dysostosis
Low-set ears, Cryptorchidism, Congenital hip dislocation, Supernumerary vertebrae, Micropenis, Sh... OMIM:263750
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Camptodactyly of finger, Short distal phalanx of finger, Low-set, posteriorly ro... ORPHA:2994
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Ambiguous genitalia, Fifth finger distal phalanx clinodactyly, Aplasia/H... ORPHA:2839
Seckel Syndrome 1
Scoliosis, Hip dislocation, Single transverse palmar crease, Cone-shaped epiphyses of the phalang... OMIM:210600
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Camptodactyly of finger, Cryptorchidism, Low-set ears, Hypogonadism, Short neck... ORPHA:178303
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hearing impairment, Broad thumb, Triphalangeal ... ORPHA:794
Isolated Osteopoikilosis
Ankle pain, Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones,... ORPHA:166119
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... ORPHA:3232
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Ambiguous genitalia, Polydactyly, Increased laxity ... ORPHA:93322
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Hyperlordosis OMIM:607155
Acrootoocular Syndrome
Grayish enamel, Short toe, Supernumerary tooth, Delayed skeletal maturation, Kyphoscoliosis, Palm... ORPHA:2980
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Abnormality of the upper limb, Toe syndactyly, Broad thumb, Large e... ORPHA:1106
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Toe syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Craniofrontonasal Dysplasia
Craniosynostosis, Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Scoliosis,... ORPHA:1520
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Low-set ears, Cryptorchidism, Polydactyly, Microphallus, Ectrodactyly, Intrauterine... ORPHA:397590
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Low-set ears, Protruding ear, Supernumerary nipple, Posteriorly rotated ears, Finger syndactyly, ... ORPHA:3224
Caudal Regression Syndrome
Scoliosis, Cryptorchidism, Joint stiffness, Ambiguous genitalia, Missing ribs, Hypoplastic verteb... ORPHA:3027
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Santos Syndrome
Oligodactyly, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Syndactyly, Short stature... OMIM:613005
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos... ORPHA:3250
48,Xxxy Syndrome
Chronic otitis media, Scoliosis, Hip dislocation, Carious teeth, Down-sloping shoulders, Cryptorc... ORPHA:96263
Acro-Renal-Ocular Syndrome
Short humerus, Radial club hand, Vertebral fusion, Conductive hearing impairment, Short thumb, Ab... ORPHA:959
49,Xxxxy Syndrome
Chronic otitis media, Scoliosis, Hip dislocation, Carious teeth, Down-sloping shoulders, Cryptorc... ORPHA:96264
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Scoliosis, Camptodactyly, Cryptorchidism, Short distal phalanx of finger... OMIM:300963
46,Xx Sex Reversal 4
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... OMIM:617480
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Hand polydactyly, Abnormal antitragus morpholo... ORPHA:2377
Myhre Syndrome
Hearing impairment, Short toe, Laryngotracheal stenosis, Cone-shaped epiphysis, Brachydactyly, Ca... OMIM:139210
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Abnormal morphology of female internal genitalia, Aplasia/Hypopl... ORPHA:2141
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Cryptorchidism, Bilateral single transverse palmar creases, Fi... ORPHA:1786
Split-Hand/Foot Malformation 1
Foot oligodactyly, Abnormal pinna morphology, Ectrodactyly, Syndactyly, Hearing impairment, Broad... OMIM:183600
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Cryptorchidism, Ambiguous genitalia, Sex reversal OMIM:614279
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Scoliosis, Abnormal cochlea morphology, Streak ovary, Large earlo... ORPHA:798
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Cryptorchidism, Abnormal morphology of female internal genita... ORPHA:2311
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Scoliosis, Vertebral fusion, Shawl scrotum, Epicanthus, Short neck, Long eyelas... OMIM:213980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Severe short stature, Posteriorly rotated ears, Anisospondyly, Neonatal death, Sh... OMIM:224410
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Scoliosis, Joint stiffness, Finger syndactyly, Synostosis of carpal bone... ORPHA:1323
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Camptodactyly, Cryptorchidism, Protruding ear, Severe postnatal growth retardation, Mandibular pr... ORPHA:435938
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Cryptorchidism, Micropenis, Missing ribs, Hemivertebrae, S... OMIM:206900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Retrognathia, Thoracic kyphosis, Syndactyly, Large fleshy ears, Clinodactyly, Arach... OMIM:619092
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Low-set ears, Short neck, Metaphyseal cupping, Flat acetabular roof, Severe p... OMIM:613320
Saul-Wilson Syndrome
Short distal phalanx of finger, Short metatarsal, Hearing impairment, Madelung deformity, Cone-sh... OMIM:618150
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Premature ovarian insufficiency, Intrauterine growth retardation, C1-C2 vertebral ab... ORPHA:96179
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Scoliosis, Short thumb, Hearing impairment, Carpal synostosis, Flared il... ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Thoracic scoliosis, Single transverse palmar crease, Kyphoscoliosis, Camptodactyly, C... OMIM:611209
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Abnorma... ORPHA:64754
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Cryptorchidism, Hip dysplasia, Polydactyly, Postnatal growth retarda... ORPHA:531151
Koolen-De Vries Syndrome
Prominent metopic ridge, Scoliosis, Hip dislocation, Vertebral fusion, Cryptorchidism, Hip dyspla... OMIM:610443
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Ambiguous genitalia, Serrated incisors, Intrauterine growth r... OMIM:272440
Silver-Russell Syndrome
Abnormal appendicular skeleton morphology, Decreased testicular size, Scoliosis, Cryptorchidism, ... ORPHA:813
Hypomelanosis Of Ito
Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial deviation of finger, Clinodactyly OMIM:300337
Acrofacial Dysostosis, Palagonia Type
Low-set ears, Scoliosis, Short neck, Posteriorly rotated ears, Finger syndactyly, Short 4th metac... ORPHA:1787
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Hypoplasia of the uterus, Abnormal rib morphology, Azoosperm... OMIM:601076
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Scoliosis, Ambiguous genitalia, Short metatarsal, Abnormal internal genitalia, H... ORPHA:1772
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Cuboid-shaped vertebral bodies, Anterior scalloping of vertebral bodies, Small epiphys... OMIM:611717
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Low-set, posteriorly rotated ears, Scoliosis, Hip dislocation, Butterfly verteb... ORPHA:958
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit... ORPHA:90797
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Short neck, Neonatal death, Stillbirth, Cutaneous syndactyly, Microretrognathia, Cl... OMIM:236500
Hemochromatosis, Type 2A
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea OMIM:602390
Marden-Walker Syndrome
Camptodactyly, Scoliosis, Cryptorchidism, Micropenis, Low-set ears, Short neck, Wide anterior fon... OMIM:248700
Cenani-Lenz Syndactyly Syndrome
Scoliosis, Syndactyly, Enamel hypoplasia, Hemivertebrae, Radioulnar synostosis, Metacarpal synost... OMIM:212780
Chromosome 10Q26 Deletion Syndrome
Protruding ear, Toe syndactyly, Single transverse palmar crease, Cryptorchidism, Micropenis, Shor... OMIM:609625
Pfeiffer Syndrome
Hip dysplasia, Short neck, Mandibular prognathia, Synostosis of carpal bones, Short stature, Fing... ORPHA:710
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal thickening, Cutaneous finger syndactyly, Delayed skeletal maturation, Anterior pituita... OMIM:151050
Fanconi Anemia, Complementation Group O
Miscarriage, Cryptorchidism, Small thenar eminence, External genital hypoplasia, Proximal placeme... OMIM:613390
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Toe syndactyly, Abnormal morphology ... ORPHA:251014
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Flexion contracture, Scoliosis, Syndactyly OMIM:619091
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Postaxial foot polydactyly, Scoliosis, Conduc... OMIM:252100
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Silver-Russell Syndrome 1
Testicular seminoma, Intrauterine growth retardation, Decreased response to growth hormone stimul... OMIM:180860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia, Delayed sk... OMIM:229070
Desbuquois Dysplasia 2
Hip dislocation, Advanced ossification of carpal bones, Knee dislocation, Broad thumb, Radial hea... OMIM:615777
Femur-Fibula-Ulna Complex
Short humerus, Abnormality of the elbow, Finger syndactyly, Short stature, Humeroradial synostosi... ORPHA:2019
Ring Chromosome 12 Syndrome
Low-set ears, Cryptorchidism, Lumbar hyperlordosis, Abnormal 5th finger morphology, Breast hypopl... ORPHA:1439
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulating hormone level,... ORPHA:251510
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Roberts Syndrome
Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s... ORPHA:3103
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Primary amenorrhea, Contracture of the proximal interphalangeal joint of the 5th... ORPHA:2232
19P13.12 Microdeletion Syndrome
Craniosynostosis, Low-set ears, Scoliosis, Cryptorchidism, Conductive hearing impairment, Precoci... ORPHA:254346
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Shawl scrotum, Aplasia of the proximal phalanges of the hand, Protruding ear, Apl... ORPHA:2256
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Proximal femoral epiphysiolysis, Radial bowing, Short 1st metacar... OMIM:210720
Basal Cell Nevus Syndrome 1
Scoliosis, Vertebral fusion, Short ribs, Vertebral wedging, Ovarian carcinoma, Hemivertebrae, Ova... OMIM:109400
Rubinstein-Taybi Syndrome 2
Retrognathia, Short first metatarsal, Posteriorly rotated ears, Talon cusp, Syndactyly, Short sta... OMIM:613684
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Cryptorchidism, Joint stiffness, Ambiguous genitalia, Finger syndactyly, Hypoplastic l... ORPHA:1300
Osteogenesis Imperfecta, Type I
Finger joint hypermobility, Hip dysplasia, Wormian bones, Osteopenia, Hearing impairment, Biconca... OMIM:166200
Poland Syndrome
Syndactyly, Hemivertebrae, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of delto... OMIM:173800
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Protruding ear, Finger ... ORPHA:3258
Holt-Oram Syndrome
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... OMIM:142900
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Short distal phalanx of finger, Clitoral hypoplasia, Kyphosc... ORPHA:97360
Meier-Gorlin Syndrome 1
Hearing impairment, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Delayed skele... OMIM:224690
Ritscher-Schinzel Syndrome 1
Low-set ears, Intrauterine growth retardation, Decreased response to growth hormone stimulation t... OMIM:220210
Cri-Du-Chat Syndrome
Single transverse palmar crease, Low-set ears, Scoliosis, Cryptorchidism, Short neck, Abnormal pi... OMIM:123450
Phosphoribosylaminoimidazole Carboxylase Deficiency
Low-set ears, Short neck, Short stature, Neonatal death, Lumbar hemivertebrae, Bilateral cryptorc... OMIM:619859
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Low-set ears, Abnormal foot bone ossification, Syn... OMIM:300244
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Generalized joint laxity, Primary amenorrhea, Hypoplasia of the uterus, Male hyp... ORPHA:432
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Low-set, posteriorly rotated ears, Hypogonadism, Short n... ORPHA:110
3Mc Syndrome
Craniosynostosis, Low-set ears, Scoliosis, Hip dislocation, Limited pronation/supination of forea... ORPHA:293843
Laurin-Sandrow Syndrome
Limb duplication, Cryptorchidism, Absent radius, Absent tibia, Abnormality of the wrist, Finger s... ORPHA:2378
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Scoliosis, Hearing impairment, Multiple pterygia, Popliteal pterygium, C... ORPHA:2990
Summitt Syndrome
Craniosynostosis, Syndactyly OMIM:272350
Wolf-Hirschhorn Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Short thumb, Preaxial foot polydactyly, Short hallux, ... OMIM:194190
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Atlantoaxial instability, Epiphyseal stippling, C1-C2 subluxation... ORPHA:79345
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Cortical thickening... ORPHA:93324
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Scoliosis, Toe syndactyly, Short toe, Accelerated skeletal maturation, B... ORPHA:373
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy, Syndactyly, Toe syndactyly, Decreased skull ossification, Clino... OMIM:601163
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Mesoaxial foot polydactyly, Toe syndactyly, ... OMIM:146510
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Prader-Willi Syndrome
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Narrow palm, Clitoral hypoplasia, ... OMIM:176270
Microphthalmia, Lenz Type
Camptodactyly of finger, Scoliosis, Cryptorchidism, Low-set, posteriorly rotated ears, External e... ORPHA:568
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Hearing impairment, Epiphyseal stippling, Single transverse palmar crease, Hypoplastic... OMIM:308050
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... ORPHA:99429
Oliver Syndrome
Camptodactyly of finger, Scoliosis, Postaxial foot polydactyly, Supernumerary nipple, Mandibular ... ORPHA:2920
Craniosynostosis And Dental Anomalies
Chronic otitis media, Coronal craniosynostosis, Prominent metopic ridge, Hallux valgus, Conductiv... OMIM:614188
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, External ear malformation, Hypoparathyroidism,... ORPHA:2323
Cohen Syndrome
Delayed puberty, Scoliosis, Narrow palm, Slender toe, Cryptorchidism, Intrauterine growth retarda... ORPHA:193
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Sh... OMIM:304120
Lead Poisoning
Delayed puberty, Miscarriage, Abnormal sperm morphology, Decreased male libido, Decreased female ... ORPHA:330015
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Short stature, Micrognathia ORPHA:1514
Adrenal Hypoplasia, Congenital
Delayed puberty, Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precoc... OMIM:300200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... ORPHA:73230
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Low-set ears, Retrognathia, Elevated circulating follicle stimulating ... OMIM:300845
Opitz-Kaveggia Syndrome
Broad thumb, Simple ear, Single transverse palmar crease, Joint contracture of the hand, Camptoda... OMIM:305450
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Prominent metopic ridge, Scoliosis, Severe short stature, Cryptorchidism... ORPHA:2215
3C Syndrome
Low-set ears, Scoliosis, Hand polydactyly, Short neck, Finger syndactyly, Death in infancy, Kypho... ORPHA:7
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Cryptorchidism, Low-set ears, Short neck, Arthrogryposis-like hand anomaly, Mandib... ORPHA:369891
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Scoliosis, Abnormal penis morphology, Delayed skeletal maturation, Brachydactyly... ORPHA:2658
Holt-Oram Syndrome
Down-sloping shoulders, Scoliosis, Abnormality of the humerus, Joint stiffness, Absent thumb, Pho... ORPHA:392
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Hydrometrocolpos, Postaxial polydactyly, Short stature, Short clavicles, Vaginal at... OMIM:617088
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Camptobrachydactyly
Camptodactyly of finger, Ulnar deviation of finger, Finger syndactyly, Aplasia/Hypoplasia of the ... ORPHA:1319
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Short stature, Abnormality of t... ORPHA:2492
Duane Retraction Syndrome
Camptodactyly, External ear malformation, Absent radius, Short neck, Aplasia/Hypoplasia of the th... ORPHA:233
Trisomy 20P
Camptodactyly of finger, Scoliosis, Protruding ear, Preaxial hand polydactyly, Macroorchidism, Br... ORPHA:261318
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, 2-3 finger syndactyly, 3-4 finger syndactyly, Prominent antitr... ORPHA:2437
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Metaphyseal cupping, Rhizomelia, Multiple prenatal... OMIM:215140
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Congenital hip dislocation, Retrognathia, Supernumerary nipple, Finger syndactyly... ORPHA:217346
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Syndactyly OMIM:615284
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Finger syndactyly, Ectrodactyly, Overfolded h... ORPHA:3329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Scoliosis, Cryptorchidism, Precocious puberty, Intrauterine gro... ORPHA:96182
Cole-Carpenter Syndrome 2
Coronal craniosynostosis, Wormian bones, Kyphosis, Osteopenia, Platyspondyly, Lambdoidal craniosy... OMIM:616294
Dubowitz Syndrome
Scoliosis, Protruding ear, Hypoparathyroidism, Hearing impairment, Toe syndactyly, Broad thumb, D... ORPHA:235
Vacterl/Vater Association
Preaxial hand polydactyly, Abnormal sacrum morphology, Cryptorchidism, Low-set, posteriorly rotat... ORPHA:887
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Cryptorchidism, Retrognathia, Protruding ear, Finger syndactyly, Intrauterine growt... ORPHA:73246
3Mc Syndrome 2
Craniosynostosis, Cryptorchidism, Hip dislocation, Abnormality of the vertebral column, Hearing i... OMIM:265050
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Ankle clonus,... ORPHA:1435
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Low-set, posteriorly rotated ears, Deviation of the hallux, Short nec... ORPHA:434179
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Split foot, Vaginal fistula, Persistent cloaca, Finger syndactyly, Abnormal metacarpal morphology... ORPHA:1112
Bartsocas-Papas Syndrome
Ambiguous genitalia, Finger syndactyly, Synostosis of joints, Toe syndactyly, Popliteal pterygium... ORPHA:1234
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Syndactyly, Hearing impairment, Delayed eruption of teeth, Hypospadias, C... OMIM:619736
Meier-Gorlin Syndrome 7
Scoliosis, Clubbing, Hearing impairment, Aplasia/Hypoplasia of the patella, Preaxial hand polydac... OMIM:617063
Temtamy Preaxial Brachydactyly Syndrome
Bilateral sensorineural hearing impairment, Short metatarsal, Talon cusp, Syndactyly, Short metac... OMIM:605282
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Brachydactyly OMIM:610140
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Protruding ear, Finger syndactyly, Micrognathia, Toe syndactyly, Small scrotum, Car... ORPHA:3253
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Scoliosis, Cryptorchidism, Micropenis, Shawl scrotum, Posteriorly rotated ears, Man... OMIM:301040
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Cryptorchidism, Short neck, Proximal placement of thumb, Abnormal pinna morpholog... OMIM:217980
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Short stature, Hearing impairment, Clinodactyly, Brachydactyly OMIM:610023
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Missing ribs, Sparse lateral eyebrow, Supernumerary ribs, Rib fus... ORPHA:50
Triploidy
Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous genitalia, Short neck, Finger syndac... ORPHA:3376
Generalized Arterial Calcification Of Infancy
Stippled calcification of the shoulder, Pancreatic calcification, Abnormal calcification of the c... ORPHA:51608
Acrocardiofacial Syndrome
Split foot, Camptodactyly of finger, Cryptorchidism, Hallux valgus, Low-set ears, Finger syndacty... ORPHA:2008
Rubinstein-Taybi Syndrome
Abnormal distal phalanx morphology of finger, Low-set ears, Cryptorchidism, Hip dysplasia, Finger... ORPHA:783
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Large joint dislocations, Cario... ORPHA:536467
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Osteoporosis, Bone pain, Osteopenia, Hypergonadotropic hypogo... ORPHA:91
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... ORPHA:1505
Bohring-Opitz Syndrome
Prominent metopic ridge, Joint dislocation, Short toe, Hyperechogenic pancreas, Camptodactyly, Ov... OMIM:605039
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Scoliosis, Cryptorchidism, Micropenis, Low-set ears, Short neck, Sacral dimple, Ky... OMIM:616894
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Abnormal vertebral morphology ORPHA:261272
Sclerosteosis 1
Deviation of finger, 2-3 finger syndactyly, Mandibular prognathia, Syndactyly, Hearing impairment... OMIM:269500
Mullegama-Klein-Martinez Syndrome
Low-set ears, Scoliosis, Polydactyly, Atresia of the external auditory canal, Short stature, Sens... OMIM:301022
8P11.2 Deletion Syndrome
Cryptorchidism, Epicanthus, Hypogonadism, Sacral dimple, Upslanted palpebral fissure, Hypoplasia ... ORPHA:251066
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Missing ribs, Hemivertebrae, Sparse lateral eyebrow, Supernumerar... OMIM:304050
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Hearing... ORPHA:1507
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Low-set, posteriorly rotated ears, Conductive hearing impairment, Supern... ORPHA:246
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Avascular necrosis, Hypogonadism, Oligospermia, Amenorrhea ORPHA:91351
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Reduced bone mineral density, Decreased fertility in females, Cr... ORPHA:79239
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Otosclerosis, Brachydactyly OMIM:617898
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Cryptorchidism, Low-set ears, Micropenis, Protruding ear, Short neck, Absent palma... OMIM:614230
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Scoliosis, Hip dislocation, Hip dysplasia, Hearing impairment, Supernume... ORPHA:3107
17Q24.2 Microdeletion Syndrome
Scoliosis, Short neck, Abnormality of the wrist, Decreased response to growth hormone stimulation... ORPHA:529962
Bartsocas-Papas Syndrome 1
Oligodactyly, Ambiguous genitalia, Short thumb, Bilateral cryptorchidism, Popliteal pterygium, Cu... OMIM:263650
Orofaciodigital Syndrome Xiv
Low-set ears, Cryptorchidism, Micropenis, Preaxial polydactyly, Epispadias, Posteriorly rotated e... OMIM:615948
Chromosome 13Q33-Q34 Deletion Syndrome
Single transverse palmar crease, Camptodactyly, Prominent metopic ridge, Cryptorchidism, Small th... OMIM:619148
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Elevated circulating luteinizing hormone level, Micropenis, Prima... ORPHA:90793
Hamamy Syndrome
Craniosynostosis, Down-sloping shoulders, Low-set ears, Cryptorchidism, Hip dysplasia, Hypoparath... OMIM:611174
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
X Small Rings
Reduced bone mineral density, Premature ovarian insufficiency, Primary amenorrhea, Short neck, Pr... ORPHA:96201
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Low-set ears, Absent radius, Short neck, Sho... OMIM:251230
Poland Syndrome
Scoliosis, Abnormality of the humerus, Absent hand, Finger symphalangism, Abnormality of the hand... ORPHA:2911
Camptobrachydactyly
Hand polydactyly, Syndactyly, Septate vagina, Short toe, Congenital finger flexion contractures, ... OMIM:114150
Tarp Syndrome
Single transverse palmar crease, Prominent antihelix, Low-set, posteriorly rotated ears, Scoliosi... ORPHA:2886
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Single transverse palmar crease, Brachydactyly, Tibial bowing, Cryptorchidis... OMIM:612651
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short neck, Syndactyly, Short stature, Broad hallux, Sandal gap, Single transverse palmar crease,... OMIM:614800
Pfeiffer Syndrome
Elbow ankylosis, Coronal craniosynostosis, Mandibular prognathia, Syndactyly, Finger syndactyly, ... OMIM:101600
Meckel Syndrome 14
Postaxial foot polydactyly, Low-set ears, Retrognathia, Ambiguous genitalia, Short neck, Postaxia... OMIM:619879
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms OMIM:614874
Catel-Manzke Syndrome
Scoliosis, Joint dislocation, Short toe, Single transverse palmar crease, Camptodactyly, Cryptorc... OMIM:616145
Methylcobalamin Deficiency Type Cble
Scoliosis, Osteoporosis, Intrauterine growth retardation, Syndactyly, Hearing impairment, Clinoda... ORPHA:2169
Tetrasomy 9P
Small toe, Joint dislocation, Bilateral single transverse palmar creases, Cryptorchidism, Micrope... ORPHA:3310
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Low-set ears, Hallux varus, Finger syndactyly, Aplasia/Hypoplasia of the th... ORPHA:93258
Acropectorovertebral Dysplasia
Camptodactyly of finger, Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Preaxial polydactyly, Postaxial polydactyly, Syndactyly, Short stature, Shor... OMIM:615503
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Hypoplastic nipples, Syndactyly, Joint contracture of the hand, Spl... OMIM:603543
Sacral Agenesis With Vertebral Anomalies
Persistent cloaca, Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral ... OMIM:615709
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Irregular menstruatio... OMIM:615986
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Cryptorchidism, Low-set ears, Short neck, Absent palmar crease, Finger s... ORPHA:284160
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Palmoplantar keratoderma, Syndactyly, Enamel hypoplasia OMIM:613576
Cantú Syndrome
Short distal phalanx of finger, Abnormal metaphysis morphology, Ovoid vertebral bodies, Short nec... ORPHA:1517
Peters-Plus Syndrome
Scoliosis, Square pelvis bone, Protruding ear, Proximal placement of thumb, Rhizomelia, Short met... OMIM:261540
Rubinstein-Taybi Syndrome 1
Scoliosis, Short thumb, Polydactyly, Patellar dislocation, Hearing impairment, Broad thumb, Flare... OMIM:180849
Diphallia
Rectoperineal fistula, Scoliosis, Butterfly vertebrae, Cryptorchidism, Bifid penis, Penoscrotal t... ORPHA:227
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668