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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:
RAR alpha 1,  RARalpha1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Bone pain, Metrorrhagia 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
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... ORPHA:370010
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... ORPHA:1436
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... OMIM:184460
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Atelosteogenesis, Type I
Laryngeal stenosis, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... OMIM:309620
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Fused cervical ver... ORPHA:2522
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Gordon Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Limitation of joint mo... ORPHA:376
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... OMIM:151200
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Fused cervical vertebrae... OMIM:214300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia OMIM:241000
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Wildervanck Syndrome
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment OMIM:314600
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Osteoart... OMIM:618000
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Low-set ea... OMIM:616549
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Short stature, Small hand, Narrow palm, Azoospermia, Infert... ORPHA:1445
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Anteg... OMIM:305620
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism, Cupp... OMIM:617159
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis,... OMIM:618393
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... ORPHA:2345
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoraci... ORPHA:530983
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Short neck, Cryptorchidism, S... ORPHA:2332
Frontometaphyseal Dysplasia
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... ORPHA:1826
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Radiouln... ORPHA:3268
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly, Cervical C2/C3 ver... OMIM:617333
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Genu recurvatum,... ORPHA:915
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Hemiver... ORPHA:377
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cryptorchidism, Kypho... ORPHA:1724
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorc... OMIM:617796
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Spondylocostal Dysostosis 5
Low back pain, Vertebral fusion, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel mo... ORPHA:2916
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly, Stillbirth, ... ORPHA:294975
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Wildervanck Syndrome
Fused cervical vertebrae, Congenital sensorineural hearing impairment, Short neck ORPHA:3456
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Cryptorchidism, Macrotia, Congenital knee dislocation, Bilateral ta... ORPHA:319332
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear... OMIM:617190
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi... ORPHA:3000
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Scoliosis, Abnormal sperm morphology, Decreased testicular s... ORPHA:320391
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Scoliosis, Conductive hea... OMIM:118100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... OMIM:600325
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short neck, S... OMIM:609053
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact... ORPHA:3447
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Monosomy 5P
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Recurrent... ORPHA:281
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... OMIM:600384
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Cryptorchidism, Ky... OMIM:611890
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clin... OMIM:617137
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density,... ORPHA:93315
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Ptosis, Tarsal synostosis, Multiple pterygia, Craniosynostosis... OMIM:178110
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Short stature, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyl... ORPHA:166024
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... ORPHA:508498
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... OMIM:607323
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Missing ribs, Absent or minimally ossified vertebral ... ORPHA:66637
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly OMIM:615983
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Hypospadias, Posteriorly ... OMIM:614541
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,... OMIM:244600
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... ORPHA:3409
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Stapes ankylosis, Short stature, Single transverse palmar crease, Vertebral clefting,... OMIM:614701
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Tapered finger, Short thum... OMIM:613458
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo... ORPHA:95699
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Retrognathia, Fused cervical vertebrae, Low-set ears, Spina bifida occulta, Butter... OMIM:619227
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Short stature, Delayed skeletal mat... OMIM:157800
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... OMIM:268310
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, ... ORPHA:3082
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Precocious puberty, Postnatal growth retardation, Small hand, Short foot, Scoliosis... ORPHA:254531
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Silver-Russell Syndrome 3
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Short stature, Elbow contracture, Pos... OMIM:616489
Larsen Syndrome
Finger syndactyly, Short stature, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... ORPHA:503
Three M Syndrome 1
Joint dislocation, Mandibular prognathia, Scapular winging, Hypospadias, Short stature, Hyperlord... OMIM:273750
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Verheij Syndrome
Joint laxity, Vertebral fusion, Short stature, Short neck, Hip dislocation, Hemivertebrae, Growth... OMIM:615583
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... OMIM:171480
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... OMIM:114300
Chops Syndrome
Short stature, Hearing impairment, Tracheomalacia, Cryptorchidism, Thickened helices, Cervical C2... OMIM:616368
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, Postnatal growth ... ORPHA:83617
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... ORPHA:1512
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Cornelia De Lange Syndrome 5
Toe syndactyly, Short stature, Proximal placement of thumb, Short neck, Postnatal growth retardat... OMIM:300882
Thakker-Donnai Syndrome
Posteriorly rotated ears, Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vertebr... ORPHA:1780
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... OMIM:150250
Kbg Syndrome
Vertebral fusion, Telecanthus, Short neck, Epispadias, Cryptorchidism, Synophrys, Rib fusion, Ver... OMIM:148050
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Short neck, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Sc... OMIM:130720
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... OMIM:271520
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... OMIM:268305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Sensori... ORPHA:1825
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Hypospadias, Kyphosis, Cryptorchidism, Hip dislocation, Upslanted p... ORPHA:96169
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, Proportionate sho... OMIM:227330
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosyno... OMIM:619451
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Vertigo, Fused cer... ORPHA:268882
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Short neck, ... OMIM:157900
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... ORPHA:3027
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Dysmenorrhea, Hearing impairment... ORPHA:2067
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Cryptorchid... OMIM:619135
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... OMIM:615170
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Osteopenia, Short metatarsal, Clitoral hypoplasia, Short metacarpal, Rhizo... OMIM:614813
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly OMIM:615982
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Posteriorly rotated... OMIM:211380
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... ORPHA:254516
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... ORPHA:439822
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Protruding ear, Growth delay, Scoliosi... ORPHA:85284
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... OMIM:613686
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Micrognathia, Precocious puberty, Cryptorchidism, Postnatal growth retardation, Sm... ORPHA:96184
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Postnatal growth retardation, Cryptorchidism, Low-set ears, Scoliosis, Intrauterine... OMIM:615419
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... OMIM:614732
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Roifman Syndrome
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Biconvex ver... ORPHA:353298
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Accelerate... OMIM:175700
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Short stature, Posteriorly r... OMIM:239710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Severe short stature, Abnormal dental ename... ORPHA:1005
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th... OMIM:210600
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Underfolded helix, Abno... ORPHA:178303
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... OMIM:300963
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... OMIM:166220
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Micrognathi... OMIM:224410
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Flexion contracture, Os... ORPHA:88630
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Bilateral single trans... ORPHA:2377
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... ORPHA:2994
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... OMIM:313400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Conduct... ORPHA:444077
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Microretrognathia, Hypospadi... ORPHA:1786
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle fle... ORPHA:435938
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral f... OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Acrootoocular Syndrome
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Decreased response to gro... ORPHA:2980
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... ORPHA:2839
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, Hy... ORPHA:2311
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera... ORPHA:166119
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Postnatal growth retardation,... ORPHA:397590
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation... OMIM:272440
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Vertebral segmenta... ORPHA:531151
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Ptosis, Epicanthus, Kyphosis, Cryptorch... OMIM:610443
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Split foot, F... OMIM:183600
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Cryptorchidism, Paten... OMIM:206900
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Posteriorly rotated ears, Short hallux, Supernume... ORPHA:3224
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femor... OMIM:613320
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Epicanthus, Hyperextensibility of the finger joints, Joint hyper... OMIM:213980
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... OMIM:611209
Silver-Russell Syndrome
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Sandal gap, Hypospadia... ORPHA:813
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Micrognathia, Joint sti... ORPHA:1323
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Thoracic kyphosis, Low-set ears,... OMIM:619092
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, External genital hypoplasia, Proximal placement of thumb, Absent... OMIM:613390
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Schinzel-Giedion Syndrome
Short neck, Micrognathia, Tibial bowing, Micropenis, Streak ovary, Hypospadias, Wide anterior fon... ORPHA:798
Silver-Russell Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Del... OMIM:180860
Marden-Walker Syndrome
Arachnodactyly, Hypospadias, Short neck, Postnatal growth retardation, Cryptorchidism, Kyphosis, ... OMIM:248700
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... OMIM:618150
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... ORPHA:64754
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Miscarriage, Decreased response to growth hormone s... ORPHA:96179
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly OMIM:300337
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Posteriorly rotated ears, Short neck, Micrognathia, Supernumera... ORPHA:1787
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Short neck, Micrognat... OMIM:609625
Arthrogryposis, Distal, Type 2A
Joint dislocation, Mandibular prognathia, Short neck, Knee flexion contracture, Spina bifida occu... OMIM:193700
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Cryptorchidism, Abnormal 5th finger morphology, Glandular hypos... ORPHA:1439
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... OMIM:212780
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hyperlordosis, Short neck... ORPHA:710
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... ORPHA:958
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Precocious ... ORPHA:254346
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Short neck, Bilateral cryptorchidism, Coronal hypospadias, Lumbar hemivertebrae, T... OMIM:619859
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis OMIM:619091
Mohr Syndrome
Syndactyly, Wormian bones, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand ... OMIM:252100
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Micrognathia, Joint stiffness, C... ORPHA:1300
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Ab... OMIM:123450
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... OMIM:615777
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Postnatal g... ORPHA:293843
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Neonata... OMIM:146510
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Hemivertebrae, Orbital cyst, Vertebral wedging... OMIM:109400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Decreased skull ossific... OMIM:601163
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Short stature, Delayed skeletal maturation, Abnormal carpal morphology, Made... ORPHA:319675
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... OMIM:224690
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short stature, Posteriorly rotated ears, Micrognathia, Carious teeth, T... OMIM:613684
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... OMIM:166200
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... OMIM:173800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn... OMIM:236500
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Conductive ... OMIM:194190
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Hypospadias, Cam... ORPHA:568
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s... ORPHA:373
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Short stature, Short n... ORPHA:110
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... ORPHA:193
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... ORPHA:2215
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hem... OMIM:220210
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Short stature, Abnormality of the hand, Short neck, Cryptorchi... ORPHA:369891
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnorm... ORPHA:2323
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... OMIM:176270
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Opitz-Kaveggia Syndrome
Multiple joint contractures, Single transverse palmar crease, Short neck, Micrognathia, Prominent... OMIM:305450
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ... ORPHA:93324
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Protruding ear, Low-set ears, ... ORPHA:73246
Craniosynostosis And Dental Anomalies
Hallux valgus, Stapes ankylosis, Prominent metopic ridge, Mandibular prognathia, Broad hallux, Sh... OMIM:614188
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... ORPHA:2145
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Supernumerary nipple,... ORPHA:3255
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Short stature, Micrognathia ORPHA:1514
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Miscarriage, Abnormality of the menstrual cyc... ORPHA:330015
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... ORPHA:261318
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p... ORPHA:2920
3Mc Syndrome 2
Prominence of the premaxilla, Hypospadias, Limited elbow movement, Craniosynostosis, Postnatal gr... OMIM:265050
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... OMIM:215140
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Shor... ORPHA:434179
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Supern... ORPHA:217346
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... ORPHA:392
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, Abnormal finger morphology, Symph... ORPHA:2658
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral ... ORPHA:73230
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... ORPHA:783
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Short stature, Short neck,... ORPHA:7
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Abnormal pinna morphology, Proximal placement of thumb, Short neck, Micr... OMIM:217980
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospa... ORPHA:887
Meier-Gorlin Syndrome 7
Bowing of the legs, Vertebral segmentation defect, Micropenis, Dislocated radial head, 2-4 finger... OMIM:617063
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Hydrometro... OMIM:617088
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... ORPHA:233
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... ORPHA:235
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Scoliosis OMIM:615284
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short stature, Hearing impairment, Short neck, Micrognathia, Cryptorch... OMIM:616894
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... OMIM:616294
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Hypospadias, Posteriorly rotated ears, Kyphoscoliosis, Coxa valga, Tapered... OMIM:301040
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Thoracolumb... ORPHA:2437
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Short nec... ORPHA:3376
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... OMIM:605282
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruat... OMIM:269500
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Short stature, Clinodactyly, Hearing impairment OMIM:610023
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Scoliosis, Bif... ORPHA:50
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the... ORPHA:1507
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Hypospadias, Wide anterior fontanel, Clinodactyly of the 5... OMIM:619736
Xq21 Microdeletion Syndrome
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... ORPHA:1435
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... ORPHA:1234
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Mixed hearin... ORPHA:51608
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Micrognathia, Cryptorchidism, Sensorineural hearing imp... OMIM:614230
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Small scrotum, Abnormal dental enamel morphology, Hyperlordosi... ORPHA:3253
Mullegama-Klein-Martinez Syndrome
Short stature, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Polydacty... OMIM:301022
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology ORPHA:261272
17Q24.2 Microdeletion Syndrome
Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Up... ORPHA:529962
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Hemivertebrae, Rib fusion, Supernumerary ribs,... OMIM:304050
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contractur... OMIM:263650
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Micrognathia, Epispadias,... OMIM:615948
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine... OMIM:605039
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Coxa vara, ... ORPHA:3107
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Hamamy Syndrome
Long toe, Syndactyly, Hypoparathyroidism, Osteopenia, Down-sloping shoulders, Craniosynostosis, T... OMIM:611174
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Delayed eruption of teeth, Prominent metopic ridge, Overlapping toe, Single transv... OMIM:619148
X Small Rings
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Osteop... ORPHA:96201
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Short neck, Humeroradial synostosis, M... OMIM:251230
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... ORPHA:2886
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T... OMIM:612651
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... OMIM:614800
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Clinodactyly of the... OMIM:616145
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Micrognathia, Crypto... ORPHA:284160
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Postaxial ... OMIM:615986
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly ... OMIM:618505
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Tetrasomy 9P
Joint dislocation, Glue ear, Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis... ORPHA:3310
Methylcobalamin Deficiency Type Cble
Syndactyly, Postnatal growth retardation, Osteoporosis, Scoliosis, Intrauterine growth retardatio... ORPHA:2169
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Micro... OMIM:619879
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Peters-Plus Syndrome
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... OMIM:261540
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Short stature, Micrognathia... ORPHA:2754
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... OMIM:603543
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Micrognathia, Oligozoospermia, Growth delay, A... ORPHA:125
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hyp... OMIM:180849
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, External genital hypoplasia, Short neck, ... ORPHA:96334
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Small scrotum, Short stature, Hearing impairment, Posteriorly ... ORPHA:264200
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Micrognathia, Scoliosis, Low-s... OMIM:616038
Acrocallosal Syndrome
Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger synd... OMIM:200990
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femo... OMIM:615503
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers... ORPHA:93325
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S... ORPHA:3404
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Growth delay, Microtia, Camptodactyly, Hearing impairment OMIM:616006
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Lacrimoauriculodentodigital Syndrome
Micrognathia, Conductive hearing impairment, Abnormal salivary gland morphology, Abnormal digit m... ORPHA:2363
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media OMIM:612444
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, Abnormality of the ear, Conductive hearing impairmen... ORPHA:2753
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Hypospadias, Short stature, Tracheomalacia, Micrognathia, Hypoplasia of t... ORPHA:314679
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Persist... OMIM:615709
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Polydactyly, Large earlobe OMIM:602501
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... OMIM:605432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Bloom Syndrome
Syndactyly, Decreased fertility in females, Postnatal growth retardation, Cryptorchidism, Agenesi... OMIM:210900
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Short stature OMIM:300484
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of the uterus,... ORPHA:84
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... OMIM:268300
Hartsfield Syndrome
Syndactyly, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Gonadotropin... OMIM:615465
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Low-se... OMIM:617895
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Hypospadias, Single transverse palmar creas... OMIM:223370
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Conductiv... OMIM:113620
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Abnor... ORPHA:3472
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Hypop... OMIM:119500
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Death in infancy OMIM:226700
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Scoliosis, Low-set ears, Cu... OMIM:104350
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... ORPHA:2211
Schizophrenia 1
Syndactyly, Short stature, Short proximal phalanx of the 4th toe, Protruding ear OMIM:181510
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Micrognathia, Joint stiffness, Cryptorchid... OMIM:618820
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short... ORPHA:2308
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Coronal cleft vertebrae, Tal... OMIM:620025
Noonan Syndrome 1
Male infertility, Hypospadias, Short stature, Kyphoscoliosis, Hearing impairment, Postnatal growt... OMIM:163950
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... ORPHA:818
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger... OMIM:256520
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, Conduc... ORPHA:2751
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ... ORPHA:2473
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, Conductive hearing impairment, Neonatal death... OMIM:612289
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Short stature, Posteriorly rotated ears, Abnormal ... OMIM:616975
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Vertebral segmentati... ORPHA:2052
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Osteopenia, Mild postnatal growth retardation, Single transverse palmar cr... OMIM:150230
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia OMIM:605231
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Coccidioidomycosis
Abnormal sperm morphology, Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral col... ORPHA:228123
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... ORPHA:79474
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Short digit, Severe short stature, Death in infancy, Osteopenia, P... OMIM:615789
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Abnormality of the... ORPHA:1556
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia, Hypoplasia of t... OMIM:613717
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Short stature, Supernumerary nipple, Hypoplasia of the maxilla, Carious ... OMIM:129400
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent radius, Sho... OMIM:227650
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Grange Syndrome
Syndactyly, Increased susceptibility to fractures, Short palm ORPHA:79094
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, P... OMIM:309000
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Postaxial polydactyly, Hearing impairment, Postaxial hand ... OMIM:209900
Vater/Vacterl Association
Syndactyly, Laryngeal stenosis, Hypospadias, Absent radius, Short thumb, Postnatal growth retarda... OMIM:192350
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Hypospadias, Single transverse palmar crease, Short thumb, S... ORPHA:1708
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Natal tooth, Camptodactyly of finger, Postaxial polydactyly... OMIM:249000
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Anteverted ears, Syndactyly, Clinodactyly, Mandibular prognathia OMIM:618087
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing impair... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing impair... ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... OMIM:107480
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... OMIM:272950
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... OMIM:236700
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Clubbing, Recurrent otitis media, Conductive hearing impair... ORPHA:244
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Short stature, Camptodactyly of finger, Diaphyseal thickening, Sensorineural hearin... ORPHA:217085
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Short stature, Camptodactyly of finger, Diaphyseal thickening, Sensorineural hearin... ORPHA:217093
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Lo... OMIM:617667
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Syndactyly, Short stature OMIM:615631
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Short neck,... ORPHA:1587
Microphthalmia, Syndromic 6
Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, C... OMIM:607932
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Otosclerosis, Short stature, Conductive hearing impairment, Sen... ORPHA:580
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Short neck, Simple ear, Mi... OMIM:613610
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Digeorge Syndrome
Pilonidal sinus, Short stature, Parathyroid agenesis, Micrognathia, Parathyroid hypoplasia, Hydro... OMIM:188400
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Degcags Syndrome
Osteopenia, Micrognathia, Syndactyly, Hypospadias, Short thumb, Cryptorchidism, Delayed skeletal ... OMIM:619488
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Short stature, Hearing impairment, Carious teeth, Pancreatic cysts... OMIM:311200
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Patent ductus arteriosus, Congenital hip dislocation, Block vertebrae OMIM:306955
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Hypo... OMIM:309800
Joubert Syndrome 33
Syndactyly OMIM:617767
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Short stature, Posteriorly rotated ears, Hearing impairment, Postnatal growth retardati... OMIM:613355
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Cystocele, K... OMIM:613795
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Blepharophimosis, Patent ductus arteriosus, Hemivertebrae, Upper eyelid ... OMIM:164210
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Primary amenorrhea, P... ORPHA:69085
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Supernumerar... ORPHA:1521
Ciliary Dyskinesia, Primary, 1
Male infertility, Conductive hearing impairment, Chronic otitis media, Absent outer dynein arms OMIM:244400
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Constricting Bands, Congenital
Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis OMIM:217100
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... OMIM:610168
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... ORPHA:64
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Accelerated skeletal maturation, Cr... ORPHA:116
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:261537
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Sensorineural hearing impairment, Short stature, Low-set ears OMIM:616430
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:2152
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Calcaneovalgus deformity, Flexion contrac... ORPHA:261552
Cystinosis, Nephropathic
Male infertility, Short stature, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu... OMIM:219800
Otosclerosis 10
Otosclerosis OMIM:615589
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... OMIM:602531
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Mild postnatal growth retardation OMIM:224120
Long Qt Syndrome 8
Syndactyly OMIM:618447
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Neurocardiofaciodigital Syndrome
Syndactyly, Short stature, Polydactyly, Retrognathia, Hearing impairment OMIM:619869
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly, Broa... OMIM:619534
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Acute Promyelocytic Leukemia
Bone pain, Metrorrhagia ORPHA:520
Acute Promyelocytic Leukemia
OMIM:612376

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rara

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rara.

No publications found that use IMPC mice or data for Rara.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Raratm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Raratm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Raratm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Raratm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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