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Gene: Zbtb16 MGI:103222

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Gene Summary

Name:
zinc finger and BTB domain containing 16
Synonyms:
Zfp145,  Green's luxoid,  PLZF

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal digit morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.57×10-12
abnormal auditory brainstem response Zbtb16em1(IMPC)Mbp HOM   Early adult 2.88×10-06
small testis Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal gait Zbtb16em1(IMPC)Mbp HOM Early adult 3.74×10-20
abnormal optic disk morphology Zbtb16em1(IMPC)Mbp HOM Early adult 4.28×10-09
abnormal autopod morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.40×10-07
corneal opacity Zbtb16em1(IMPC)Mbp HOM   Early adult 3.39×10-05
abnormal hindlimb morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.40×10-07
decreased brain size Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
small spleen Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
small liver Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Zbtb16em1(IMPC)Mbp HOM Early adult 3.05×10-06
decreased prepulse inhibition Zbtb16em1(IMPC)Mbp HOM Early adult 1.60×10-06
decreased body length Zbtb16em1(IMPC)Mbp HOM Early adult 2.26×10-15
abnormal vitreous body morphology Zbtb16em1(IMPC)Mbp HOM   Early adult 6.50×10-06
increased freezing behavior Zbtb16em1(IMPC)Mbp HOM Early adult 1.30×10-08
abnormal brain morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
cataract Zbtb16em1(IMPC)Mbp HOM   Early adult 6.04×10-06
enlarged heart Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased total body fat amount Zbtb16em1(IMPC)Mbp HOM Early adult 2.97×10-06
hyperactivity Zbtb16em1(IMPC)Mbp HOM Early adult 1.36×10-09

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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.

Histopathology

Images

1 Images

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Human diseases caused by Zbtb16 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 Zbtb16 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight los... ORPHA:520

The table below shows human diseases predicted to be associated to Zbtb16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
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 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 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Broad Terminal Phalanges, Familial
Broad distal phalanx of the toes, Broad distal phalanx of finger OMIM:602071
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Abnormal foot morphology, Shor... OMIM:616849
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Cervical Rib
Cervical ribs OMIM:117900
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
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
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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 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
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu... OMIM:605274
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
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 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
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
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
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 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
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 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
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
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Abnormality of the vertebral colum... ORPHA:294975
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of... OMIM:119650
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... OMIM:108720
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia OMIM:172880
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Scholte Syndrome
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te... OMIM:300977
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Triangular sh... OMIM:271665
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... ORPHA:1453
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... ORPHA:1326
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... ORPHA:750
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Avascular necrosis of... OMIM:132400
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
Cousin Syndrome
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... OMIM:260660
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc... OMIM:258315
Otoonychoperoneal Syndrome
Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... OMIM:259780
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Smith-Mccort Dysplasia 2
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... OMIM:615222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... OMIM:609325
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal rib... ORPHA:96061
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... OMIM:171480
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve... ORPHA:1149
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... OMIM:224690
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Clark-Baraitser syndrome
Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Short palm, Macroo... OMIM:300602
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... ORPHA:1801
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Aplasia of the... ORPHA:2879
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Si... OMIM:617604
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente... OMIM:177170
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Scoliosis, Hypogonadism, Patellar hypoplasia, Micrognathia OMIM:251240
Brachydactyly, Type A4
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... OMIM:112800
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Intercrural pterygium... OMIM:265000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, External genital hypoplasia, Thora... ORPHA:3041
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... OMIM:102370
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, U... OMIM:164745
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Shield chest, Increased serum testoster... ORPHA:247768
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe OMIM:176305
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Megalencephaly
Macroorchidism, Long penis, Short neck, Genu valgum ORPHA:2477
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... ORPHA:90652
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,... ORPHA:566943
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... ORPHA:166024
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes cal... ORPHA:2614
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy OMIM:601163
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Patent du... ORPHA:96167
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Micrognathia, Penoscrotal transposition, Patellar aplas... ORPHA:2842
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... ORPHA:93351
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... OMIM:173800
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Single transverse palmar crease, Sandal... OMIM:206920
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Scoliosis, Clinodactyly of... ORPHA:376
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Periventricular heterotopia, Pectus excavatum, Scoliosi... OMIM:300624
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnormality of the testis... ORPHA:99330
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... OMIM:608940
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... ORPHA:83468
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
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
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... OMIM:161200
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Meier-Gorlin Syndrome 3
Microretrognathia, Small scrotum, Hypospadias, Absent sternal ossification, Aplasia/Hypoplasia of... OMIM:613803
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... OMIM:311895
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... OMIM:600593
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... ORPHA:1040
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... OMIM:613804
Dysspondyloenchondromatosis
Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Vertebral segmenta... ORPHA:85198
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly OMIM:613819
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Scoliosis, Macroorchidis... ORPHA:776
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... OMIM:613805
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Tapered finger OMIM:300706
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Hip dislocation, Sacral meningocele OMIM:223200
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... OMIM:610442
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormal metaphysis morphology, Long fibula ORPHA:935
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Xp22.13P22.2 Duplication Syndrome
Tapered finger, Short neck, Pectus excavatum, Small hand, 2-3 toe syndactyly, Polycystic ovaries,... ORPHA:284180
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, ... ORPHA:521308
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Small scrotum, Single transverse palmar crease, Short neck, Cryptorchidi... ORPHA:495818
Prenatal Bowing
Bowing of the long bones OMIM:264050
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... ORPHA:958
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... OMIM:108120
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... ORPHA:1856
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Genitopatellar Syndrome
Hip contracture, Small scrotum, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cryptorchidis... ORPHA:85201
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Hypospadias, Abnormal finger flexion crease, Singl... OMIM:210600
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Achilles ... ORPHA:178382
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... ORPHA:3404
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... ORPHA:464288
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... OMIM:609945
Li-Campeau Syndrome
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Patellar hypoplasia, M... OMIM:619189
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... OMIM:258860
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... ORPHA:65759
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly OMIM:612913
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... ORPHA:1988
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... OMIM:184250
Summitt Syndrome
Syndactyly OMIM:272350
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Scoliosis ORPHA:2058
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Cryptorchidism, Large hands, Scoliosis, Decreased testicular size ORPHA:85287
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... OMIM:610313
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Syndactyly, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... OMIM:617102
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Short neck, Micrognathia, Small hand, Scoliosis, Macroorchidism, Male hypogonadis... OMIM:300055
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Short thumb, Abnormal antihelix morphology, Chorioretinal coloboma, Hea... OMIM:274205
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital adrenal hyper... ORPHA:96181
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Thin ribs, Knee ... OMIM:618395
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Abnormal foot morphology, Preaxial polydactyly, Scoliosis, Spi... ORPHA:64754
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Early ossification of capital fem... OMIM:208500
Alg6-Cdg
Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu... ORPHA:79320
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow... ORPHA:2554
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... ORPHA:156728
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Thickened cortex of long bones, Scoliosis ORPHA:53697
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Short neck, Flattened epiphysis, Genu val... OMIM:607131
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... ORPHA:261524
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Pectus excavatum, Thoracolumbar kyphosi... OMIM:300373
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pectus excavatum, Small hand, Pectus carinatum, Broad finger, Clinodactyly, Short phalanx of fing... OMIM:614684
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... ORPHA:2631
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... ORPHA:314795
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... OMIM:300869
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Pes planus, Sacral dimple, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar... ORPHA:261279
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... OMIM:190351
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... ORPHA:957
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Premature ovarian insufficiency, Plantar hyperkeratosis, Metaphyseal sclerosis,... ORPHA:221008
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:616835
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... ORPHA:3082
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... OMIM:614078
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Meier-Gorlin Syndrome 2
Micrognathia, Patellar aplasia, Hypoplastic labia majora, Slender long bone, Labial hypoplasia, C... OMIM:613800
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot, Micrognathia OMIM:183700
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... OMIM:114300
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Acrocephalopolydactyly
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly ORPHA:221054
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... ORPHA:465508
Nephronophthisis 15
Polydactyly OMIM:614845
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth... OMIM:222300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... OMIM:611717
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... ORPHA:3121
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Pes planus, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Flat capit... OMIM:612350
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... OMIM:113300
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal ... ORPHA:64755
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... OMIM:601356
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... ORPHA:1952
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... OMIM:615777
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... ORPHA:93352
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones o... ORPHA:221016
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Pate... OMIM:616300
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Bardet-Biedl Syndrome 16
Polydactyly, Hypogonadism, External genital hypoplasia OMIM:615993
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism ORPHA:85173
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Supernumerary ribs, Six lumbar vert... OMIM:619122
Laron Syndrome
Decreased serum insulin-like growth factor 1, Abnormal joint morphology, Short long bone, Limb un... OMIM:262500
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... OMIM:123150
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... OMIM:614326
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Short thorax, Genu va... OMIM:619451
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Genitopatellar Syndrome
Small scrotum, Congenital hip dislocation, Micrognathia, Knee flexion contracture, Micropenis, Pa... OMIM:606170
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... ORPHA:1427
Short Stature, Dauber-Argente Type
Long toe, Long fingers, Arachnodactyly, Decreased fibular diameter OMIM:619489
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Cryptorchidism, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinova... ORPHA:2958
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Lower limb asymmetry, Cryp... ORPHA:1703
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly ORPHA:1277
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... OMIM:255800
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... OMIM:186570
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... ORPHA:2976
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ... OMIM:215150
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Abnormal femur morphology, Genu ... ORPHA:1822
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Three M Syndrome 3
Short neck, Hyperlordosis, Increased vertebral height, Short thorax, Slender long bone, Hip dyspl... OMIM:614205
Aniridia-Absent Patella Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the patella ORPHA:1069
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... OMIM:601680
9Q21.13 Microdeletion Syndrome
Talipes, Craniosynostosis, Cryptorchidism, Gray matter heterotopia, Hip dysplasia, Vertebral segm... ORPHA:531151
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Decreased serum testosterone c... OMIM:308700
Monosomy 5P
Microretrognathia, Finger syndactyly, Short neck, Small hand, Scoliosis ORPHA:281
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... OMIM:600092
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Short neck, A... ORPHA:1865
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly OMIM:300337
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:600081
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal thumb morphology, Kyphoscoliosis ORPHA:324410
Rapadilino Syndrome
Joint dislocation, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Absent thumb OMIM:266280
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Large for gestational age ORPHA:2432
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... OMIM:617895
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... ORPHA:1597
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Orofaciodigital Syndrome Xvii
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... OMIM:617926
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Knee flexion contractur... OMIM:601559
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Optic atrophy, EEG with generalized epileptiform discharges, Gait ataxia... OMIM:619323
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Hypospadias, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypopl... OMIM:617063
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Kyphosis... ORPHA:3063
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger OMIM:155050
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Talipes, Short neck, Micrognathia, Crypt... ORPHA:261318
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... OMIM:612921
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Microduplication Xp11.22P11.23 Syndrome
Pes planus, Toe syndactyly, Pes cavus ORPHA:217377
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Osteolysis involving bon... ORPHA:88630
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Lower limb asymmetr... OMIM:615761
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Abnormal pelvic girdle bone morphology, Abnor... ORPHA:2370
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan... ORPHA:63442
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal thoracic spine morphol... ORPHA:85438
Odontochondrodysplasia
Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-shaped epiphysis... ORPHA:166272
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Tibial Hemimelia
Absent tibia OMIM:275220
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility OMIM:313200
Cocaine Embryofetopathy
Thoracoabdominal eventration, Short distal phalanx of finger ORPHA:1911
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp... OMIM:617925
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology ORPHA:93283
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Scoliosis OMIM:619091
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Talipes equinova... OMIM:614815
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the leg... ORPHA:15
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Grant Syndrome
Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp... ORPHA:2097
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han... ORPHA:1842
1Q21.1 Microduplication Syndrome
Failure to thrive, Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Talipes... ORPHA:250994
Moebius Syndrome
Syndactyly, Pes planus, Brachydactyly, Short neck, Micrognathia, Split hand, Abnormal pelvic gird... OMIM:157900
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... ORPHA:93476
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... ORPHA:2234
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy, Overlapping toe OMIM:618572
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Scoliosis, Abnormality... ORPHA:1825
Joubert Syndrome 23
Polydactyly OMIM:616490
Biemond Syndrome Type 2
Hypogonadism, Preaxial polydactyly, Hypogonadotropic hypogonadism ORPHA:141333
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... ORPHA:971
Cardioacrofacial Dysplasia 1
Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum OMIM:619142
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... OMIM:614613
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t... OMIM:300244
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Charlie M Syndrome
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:1406
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Short foot, Oligodactyly OMIM:619758
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepat... ORPHA:93399
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... ORPHA:290
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Sandal gap, Lower limb asymmetry, Precocious... ORPHA:813
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... OMIM:211750
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Ollier Disease
Precocious puberty, Abnormal metaphysis morphology, Platyspondyly, Micromelia ORPHA:296
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Diabetes mellitus, Short metatar... OMIM:614813
Opsismodysplasia
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... OMIM:258480
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Scolio... ORPHA:1445
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Wormian bones, Decreased fibu... OMIM:616897
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
3Q29 Microdeletion Syndrome
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Six lu... ORPHA:65286
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 8
Hypogonadism, Postaxial polydactyly OMIM:615985
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Micromelia, Cryptorchidism, Abnormal rib morphology, Abnormality of neuronal... ORPHA:2772
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Lower limb asymmetry ORPHA:231140
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Micro... OMIM:618870
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... OMIM:212780
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, A... ORPHA:2232
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... ORPHA:3085
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance ORPHA:2572
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Thoracic hypoplasia, Micromelia, Micrognathia, Cryptorchidism, Short lo... OMIM:224410
Acromelic Frontonasal Dysostosis
Syndactyly, Hypopituitarism, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Pat... OMIM:603671
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... ORPHA:85165
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Sclerotic scapulae, A... ORPHA:166119
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Micrognathia, Hypoplastic iliac wing, Micropenis, Pterygium... OMIM:263650
Charcot-Marie-Tooth Disease, Type 4B3
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis OMIM:615284
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Absent distal phalanx of the 2nd toe, Abs... OMIM:618658
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bel... OMIM:619131
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Large hands, Talipes equino... ORPHA:3447
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis OMIM:300886
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest ORPHA:436
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
Microcephaly-Albinism-Digital Anomalies Syndrome
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes ORPHA:2513
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... OMIM:600325
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Hemochromatosis, Type 1
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular... OMIM:235200
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... ORPHA:93329
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... ORPHA:1858
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Pectus excavatum, Delayed epi... OMIM:156550
Mucolipidosis Iii Gamma
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Pec... OMIM:252605
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... ORPHA:3098
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ... ORPHA:1520
Joubert Syndrome 16
Polydactyly OMIM:614465
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Hip dislocation, Abnormal rib m... ORPHA:2484
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Cryptorchidism, Talipes equinovalgus, Hi... ORPHA:3132
Intellectual Developmental Disorder, X-Linked 9
Short distal phalanx of finger OMIM:309549
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Hypospadi... OMIM:264090
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Thoracic kyphoscoliosis, Cutaneous finger syndactyly, Hip... OMIM:203550
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abn... ORPHA:177
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Na... ORPHA:1515
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Achondrogenesis Type 1B
Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c... ORPHA:93298
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... OMIM:607143
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Wilson Disease
Acute hepatic failure, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepatomegaly, H... ORPHA:905
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... ORPHA:2557
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Ulnar ... ORPHA:1147
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Winchester Syndrome
Osteolysis involving tarsal bones, Corneal opacity, Broad metacarpals, Carpal osteolysis OMIM:277950
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Microp... OMIM:618815
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydactyly, Patent ductus art... OMIM:615996
Gapo Syndrome
Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal thorax morphology, Abnormal fo... ORPHA:2067
Pde4D Haploinsufficiency Syndrome
Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper limb... ORPHA:439822
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Pectus excavatum, Macroorchidism, Polymicrogyria, Adducted thumb OMIM:618874
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly, Pes cavus OMIM:619092
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Ataxia, Optic ... ORPHA:93400
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... ORPHA:1486
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Cataract, Bilateral si... ORPHA:2377
Joubert Syndrome 27
Polydactyly OMIM:617120
Meckel Syndrome, Type 8
Narrow chest, Polydactyly, Talipes equinovarus, Short neck OMIM:613885
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Osteoglophonic Dysplasia
Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... OMIM:166250
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Diabetes mellitus, Hearing impairment, Tapered finger, Patchy palmopla... ORPHA:317
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Ataxia, Splenomegaly, Flexion contracture, Umbili... ORPHA:87876
Kinsship Syndrome
Pes planus, Sacral dimple, Single transverse palmar crease, Coxa valga, Micrognathia, Short neck,... OMIM:619297
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... ORPHA:1422
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... ORPHA:1225
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Patent ductus arteriosu... ORPHA:2655
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Flexion contracture, Optic atrophy, Small hand, Hypsarrhythmia, Low-set ears, Self-... OMIM:300884
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Pectus excavatum, Macroorc... OMIM:309520
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... OMIM:616229
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor... OMIM:307800
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Micropenis,... OMIM:619185
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Short neck, Calcaneovalgus ... OMIM:616266
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Pes planus, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of t... OMIM:619721
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Ring Chromosome 6 Syndrome
Short neck, Short distal phalanx of finger ORPHA:1448
Holzgreve Syndrome
Hand polydactyly OMIM:236110
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... ORPHA:2064
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology OMIM:249670
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Limited knee flexi... OMIM:615065
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:241530
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregula... OMIM:612813
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ... ORPHA:356961
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Short neck, Brachydactyly OMIM:612463
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... OMIM:613320
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly ORPHA:3004
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Genu recurvatum, S... OMIM:604168
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, External genital hypoplasia, Short n... ORPHA:251028
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Joubert Syndrome 33
Syndactyly OMIM:617767
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Bilateral coxa valga, Hypertrophic cardiomyo... OMIM:620270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Depression... OMIM:614296
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Micrognathia ORPHA:1514
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal ... ORPHA:2970
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Joubert Syndrome 7
Postaxial hand polydactyly, Scoliosis, Postaxial polydactyly, Genu valgum OMIM:611560
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes... ORPHA:85288
Achondrogenesis, Type Ii
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... OMIM:200610
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly OMIM:602501
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver... OMIM:143095
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Micrognathia, Kyphosis, Abnormal rib morphology, A... ORPHA:2050
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... OMIM:613848
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... ORPHA:2538
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch... ORPHA:93299
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... ORPHA:496790
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Micropenis, Aplasia/hy... ORPHA:672
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pectus excavatum, Pes planus, Calcaneovalgus deformity, Genu recurvatum OMIM:225320
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Kyphoscoliosis ORPHA:3077
Three M Syndrome 1
Joint dislocation, Pes planus, Scapular winging, Hypospadias, Short neck, Hyperlordosis, Increase... OMIM:273750
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R... OMIM:210720
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Pec... OMIM:618853
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Abnormality o... ORPHA:397590
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Short neck ORPHA:251046
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T... ORPHA:1120
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... OMIM:241800
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulde... ORPHA:536532
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Inguinal hernia, Corneal opacity, Cataract, Splenomegaly,... ORPHA:61
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Pectus excavatum, Calcaneova... OMIM:612513
Mucolipidosis Type Iii
Inguinal hernia, Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morpholo... ORPHA:577
Ectodermal Dysplasia With Mental Retardation And Syndactyly
3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:264700
Mohr Syndrome
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:252100
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Meckel Syndrome, Type 9
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus OMIM:614209
Gm1 Gangliosidosis
Cherry red spot of the macula, Ataxia, Retinopathy of prematurity, Hepatosplenomegaly, Cardiomyop... ORPHA:354
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Short 4th metacar... OMIM:169400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Patent ductus arteriosus, Short thorax, Abnormality of neuronal migration, ... ORPHA:93274
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... ORPHA:2759
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Foot oligodactyly, Amelia OMIM:601357
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Micropenis, Hepatomegaly, Hypospadias, Cryptorchidism, Postaxial foot polydactyly, De... OMIM:301056
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:607361
Martsolf Syndrome 1
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Metatarsus ... OMIM:212720
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Microcornea, Atri... OMIM:201000
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Thoracic hemivertebrae, Short middle phalanx of finger, Scoliosis OMIM:309620
Satoyoshi Syndrome
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... OMIM:600705
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Osteoporosis-Pseudoglioma Syndrome
Waddling gait, Retinal detachment, Crumpled long bones, Corneal opacity, Isosexual precocious pub... ORPHA:2788
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Abnormal thumb morphology, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Short long bone, Narrow chest, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology ORPHA:261272
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... OMIM:601957
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Tripha... ORPHA:2994
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, Vertebral ar... ORPHA:85184
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Scoliosis, Hyporeflexia of upper li... ORPHA:93952
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Pre... OMIM:612651
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti... OMIM:613684
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... ORPHA:2522
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... ORPHA:710
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Hip dislocation OMIM:300322
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Lower limb asymmetry, Micrognathia, Cryptorchidism, Abnormal femur morph... ORPHA:2063
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis, Short foot, Abnormal... ORPHA:3409
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... ORPHA:1318
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Ane Syndrome
Decreased serum insulin-like growth factor 1, Ulnar deviation of the hand, Hypogonadotropic hypog... ORPHA:157954
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... OMIM:618469
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Corneal opacity, Congenital diaphragmatic hernia, Wrist swelling, In... OMIM:166300
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developm... OMIM:617183
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Ve... OMIM:617952
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Narrow c... ORPHA:96334
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... ORPHA:1473
Dysosteosclerosis
Clavicular sclerosis, Micrognathia, Absent frontal sinuses, Sclerotic scapulae, Increased interve... OMIM:224300
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... ORPHA:320396
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Xylt1-Cdg
Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, ... ORPHA:370930
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Scoliosis, Deviation of the... OMIM:616362
Zechi-Ceide Syndrome
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger OMIM:612916
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Kyphosis... OMIM:609128
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scolios... OMIM:259420
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Hepatomegaly, Elevated hepatic transaminase, Toe syndactyly, Posteriorly rotated ears... OMIM:618958
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Failure to thrive ORPHA:99852
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia OMIM:602196
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Brachydactyly, Premature ov... ORPHA:2959
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnorma... ORPHA:2645
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Single transverse pal... OMIM:214110
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineu... ORPHA:411590
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... ORPHA:90674
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:277440
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Tapered fi... OMIM:609425
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Cryptorchidism, Kyphosis, 2-3 toe synd... ORPHA:404440
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Multiple Sulfatase Deficiency
Broad hallux phalanx, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Catarac... ORPHA:585
Nescav Syndrome
Peripheral axonal neuropathy, Ataxia, Inability to walk, Flexion contracture, Optic atrophy, Tali... OMIM:614255
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle ... ORPHA:2741
Larsen-Like Syndrome
Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5th ... OMIM:608545
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Scoliosis, Abnormal sperm morphology, Pes cavus, Decreased t... ORPHA:320391
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal limb bone morphology, Abnormality of neuronal migration ORPHA:2204
Zellweger Syndrome
Hepatomegaly, Posterior embryotoxon, Cataract, Ventricular septal defect, Abnormal chorioretinal ... ORPHA:912
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Vertebral segmentation d... ORPHA:1323
Meckel Syndrome, Type 10
Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po... OMIM:614175
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, M... OMIM:613792
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... OMIM:609638
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... ORPHA:2496
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dysplasia, Broad ribs, Posterior... OMIM:619698
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Cryptorchidism, Ankle clonus, Scoliosis ORPHA:565624
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Inguinal hernia, Cataract, Posteriorly rotated ears, Small for gestational age, De... OMIM:618392
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, Patent ductus arteriosus, Preaxial polydact... OMIM:618142
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Equinovarus deformity, Microg... OMIM:224400
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... ORPHA:583
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo... ORPHA:73230
Hall-Riggs Syndrome
Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnormal metaphysis mo... ORPHA:2107
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... ORPHA:1512
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Cleft Palate-Large Ears-Small Head Syndrome
Pectus excavatum, Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger ORPHA:2013
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Short thumb, Cryptorchidism, Abnormal antihelix morphology, Chorioret... ORPHA:2489
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Sp... ORPHA:1300
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... ORPHA:2249
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Conductive hearing impairment, Thickened helices,... ORPHA:581
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Truncal obesity... ORPHA:75858
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... OMIM:617519
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Sensorineur... ORPHA:812
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone... OMIM:101800
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Waddling ... OMIM:300280
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Short metatar... OMIM:248800
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga OMIM:601370
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly OMIM:600430
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Genu... OMIM:225500
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Aarskog-Scott Syndrome
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... ORPHA:915
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Abnormal ... ORPHA:1867
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... OMIM:619135
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Depression, Adult onset sensorineural hearing impairment, Dyspha... ORPHA:329314
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubul... OMIM:253010
16P13.11 Microduplication Syndrome
Pectus excavatum, Pes planus, Hand polydactyly, Arachnodactyly ORPHA:261243
Trisomy 13
Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Patent ductus arte... ORPHA:3378
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc... ORPHA:508533
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar p... OMIM:109400
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Cataract, Unsteady gait, Optic atrophy, Secondary amenorrhea OMIM:620312
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... OMIM:268310
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Elbow flexion contracture, A... OMIM:619470
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Vertebral segmentation defect, Abnormal epiphysis morp... ORPHA:503
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Decreased nerve conduction velocity, Cryptorchidism, Inability to walk, O... ORPHA:457205
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Abnormal rib morphology, Pectu... ORPHA:3068
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Abnormal diaphysis morpholo... ORPHA:1657
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, Genu varum, ... OMIM:271510
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating gonadotropin... ORPHA:243
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Narrow chest, Absent or minimally ossified vertebral bodies, Short ... OMIM:600972
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm OMIM:244460
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... ORPHA:2578
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Depression, Macular degenerat... OMIM:256730
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sens... OMIM:256550
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly OMIM:235740
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc... OMIM:204000
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Abnormali... ORPHA:199
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Bilateral single transverse palmar creases, Micromelia, Sho... ORPHA:50810
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
3P25.3 Microdeletion Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... ORPHA:435638
Aspartylglucosaminuria
Pes planus, Abnormal morphology of ulna, Pectus carinatum, Arthritis, Scoliosis, Anterior beaking... ORPHA:93
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Acrofrontofacionasal Dysostosis 2
Syndactyly, Sacral dimple, Broad hallux, Hand polydactyly, Broad thumb OMIM:239710
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Irritability,... OMIM:264470
Kbg Syndrome
Vertebral fusion, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Finger clino... ORPHA:2332
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... ORPHA:858
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... ORPHA:363417
Partington Syndrome
Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly, Macrotia, Optic atrophy OMIM:300928
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Vertebral segmenta... OMIM:611209
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Decreased palmar creases, Abnormal rep... ORPHA:352490
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Platyspondyly, Short ribs, ... OMIM:241500
Andersen Cardiodysrhythmic Periodic Paralysis
Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S... OMIM:170390
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Short 5th finger, Scoli... ORPHA:500159
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus, Abnor... ORPHA:3224
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Say Syndrome
Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger OMIM:181180
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Sprengel ... OMIM:601389
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, Abnor... ORPHA:2519
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Cryptorchidism, Partial duplication o... OMIM:616331
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Bilateral breast hypoplasia, ... ORPHA:319675
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Short neck, ... OMIM:616723
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Microgna... ORPHA:1452
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated cir... OMIM:103580
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Short toe, Short th... OMIM:269860
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux OMIM:263630
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachy... ORPHA:171866
Atypical Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Optic atrophy, Depression, Irritability, Gait disturbance, Compulsive behaviors, Dys... ORPHA:216873
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... ORPHA:2215
Ethanolaminosis
Cardiomegaly OMIM:227150
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Absent paranasal sinuses, Broad rib... OMIM:269300
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Rocker bottom foot, Low-set ears, Dysphagia, Atrial septal defect, H... ORPHA:89844
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pes cavus, Scoliosis ORPHA:101006
Cardioacrofacial Dysplasia 2
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... OMIM:619143
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Abnormal form of t... ORPHA:52
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar syno... OMIM:248340
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Micrognathia, Brachydactyly OMIM:618265
Wilson-Turner Syndrome
Cataract, Hypogonadotropic hypogonadism, Uplifted earlobe, Tapered finger, Cryptorchidism, Small ... ORPHA:3459
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Sho... OMIM:612462
Suleiman-El-Hattab Syndrome
Microretrognathia, Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Br... OMIM:618950
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger OMIM:208060
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, H... ORPHA:887
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Hyperactivity, Nail-biting, Decreased response to growth hor... ORPHA:485405
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hyposp... OMIM:312870
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... ORPHA:249
Keipert Syndrome
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... ORPHA:2662
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Gait ataxia, Progressive cerebellar ata... ORPHA:466794
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... ORPHA:99776
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... ORPHA:2438
Aniridia And Absent Patella
Aplasia/Hypoplasia of the patella OMIM:106220
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Multiple Epiphyseal Dysplasia, Beighton Type
Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Waddling gait, Abnormal acetabul... ORPHA:166011
Fragile X Syndrome
Macroorchidism, Pes planus ORPHA:908
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... OMIM:602782
Cockayne Syndrome A
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... OMIM:216400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Gait disturbance, Cubitus valgus, Abnormality ... ORPHA:1875
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... OMIM:134780
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive... OMIM:302960
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Ataxia, Dep... ORPHA:309288
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Gómez-López-Hernández Syndrome
Ataxia, Corneal opacity, Low-set ears ORPHA:1532
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Thickened cortex ... OMIM:253250
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Talipes, Abnormal rib morphology, Femoral bowing, Narrow... ORPHA:83
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... ORPHA:909
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Irregular menstruation, Tibial bowing, Femoral bowing... OMIM:616482
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:300554
Long Qt Syndrome 8
Syndactyly OMIM:618447
Mucolipidosis Iv
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... OMIM:252650
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... OMIM:613573
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Patent ductus arteriosus,... OMIM:608149
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Wiedemann-Steiner Syndrome
Pes planus, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal interphalangea... OMIM:605130
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... OMIM:619260
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Patent foramen ovale, Syndactyly, Hyperactivity, Ataxia, Cryp... ORPHA:369891
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Macrotia, Gait apraxia, Optic atroph... OMIM:617302
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re... OMIM:616171
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Dermoids Of Cornea
Corneal opacity OMIM:304730
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Short thumb, A... ORPHA:2909
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... DECIPHER:39
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, Short neck, Small hand, Abnormal form of the vertebral bodies, S... ORPHA:1787
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... OMIM:602849
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... OMIM:209900
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Ataxia, Depression, Pigmentary retinopathy, Abnormality... OMIM:614307
Coffin-Siris Syndrome 1
Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the 5th finger... OMIM:135900
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Cleidocranial Dysplasia 2
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Irritability, Hyporeflexia of... OMIM:609056
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Micrognathia, Short neck, Femoral bowing, Short long bone, Broad ribs, Talipe... OMIM:617022
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis ORPHA:79107
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu... ORPHA:2588
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... ORPHA:59315
Radio-Renal Syndrome
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... ORPHA:3015
Pycnodysostosis
Abnormal clavicle morphology, Persistent open anterior fontanelle, Decreased response to growth h... ORPHA:763
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... OMIM:210710
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hypothyroidism,... ORPHA:444077
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Thoracolu... ORPHA:230851
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Failure to thri... ORPHA:90321
Gm1-Gangliosidosis, Type Ii
Coxa valga, Thoracolumbar kyphosis, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platy... OMIM:230600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d... ORPHA:453510
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract, EEG abnormality, Hypertrophic cardiomyopathy, Broad ... ORPHA:3173
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Short n... ORPHA:1798
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly OMIM:272440
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Attention deficit hyperactivity di... ORPHA:281090
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of the femoral head, Corneal opacity, Coxa valga, Splen... OMIM:607014
Infantile Refsum Disease
Hepatomegaly, Failure to thrive, Cataract, Ataxia, Facial palsy, Sensorineural hearing impairment... ORPHA:772
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Cryptorchidism, Optic atrophy, Low-set ears, Hand clenching, Arthrogryposis m... OMIM:618766
Maxillonasal Dysplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis... ORPHA:1248
Trisomy 1Q
Microretrognathia, Toe syndactyly, Small scrotum, Arachnodactyly, Camptodactyly of finger, Crypto... ORPHA:261344
Periventricular Nodular Heterotopia 7
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Cardiomega... OMIM:618143
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... OMIM:619762
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Cryptorchi... OMIM:148050
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux, Corneal opacity, Ataxia, Splenomegaly, Broad thumb, Peripheral demyel... OMIM:272200
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod... ORPHA:744
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Ventricular septal defect, Aggressive behavior,... ORPHA:3306
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum ORPHA:1969
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Achondrogenesis
Micromelia, Micrognathia, Short neck, Short thorax, Narrow chest ORPHA:932
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Hernia, Wrist flexion contracture, Ulnar deviation of the hand or of fi... OMIM:193700
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Prominent metopic ridge, Hyperthyroidism, Decreased response to grow... ORPHA:488632
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... ORPHA:397715
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Ankle flexion contracture, Splen... OMIM:608799
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... ORPHA:580
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Single transverse palmar crease, Micrognathia, Pachygyria, Cryptorchidism, Gray ma... OMIM:247200
Trichorhinophalangeal Syndrome, Type I
Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha... OMIM:190350
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Small for gestational age, Aggressive behavior, Optic atrophy, Exudative vitreoreti... OMIM:615075
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... ORPHA:101085
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atro... ORPHA:228346
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... ORPHA:3078
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn... OMIM:236500
Cach Syndrome
Premature ovarian insufficiency, Cataract, Flexion contracture, Optic atrophy, Truncal ataxia, Se... ORPHA:135
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cri-Du-Chat Syndrome
Single transverse palmar crease, Short metatarsal, High axial triradius, Abnormal repetitive mann... OMIM:123450
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... OMIM:231070
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Astigmatism, Optic disc pallor, Broad finger OMIM:617523
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Cockayne Syndrome B
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypop... OMIM:133540
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism OMIM:613730
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclerocornea, Crypto... ORPHA:139471
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Sensorineural hearing imp... ORPHA:1466
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... ORPHA:3156
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Patent ductus arteriosus, Coxa vara, Narrow pelvis bone, Abnormal... ORPHA:2637
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe... ORPHA:2886
Gracile Bone Dysplasia
Slender long bone, Thin ribs, Flared metaphysis, Brachydactyly OMIM:602361
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... ORPHA:785
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones... ORPHA:221120
Pitt-Hopkins Syndrome
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... OMIM:610954
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, C... ORPHA:79239
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Aggressive behavior, Ataxia, Pr... ORPHA:97229
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... OMIM:607323
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger ORPHA:2776
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... ORPHA:1507
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Sp... ORPHA:579
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly OMIM:615824
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Short neck, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equin... ORPHA:562528
Mend Syndrome
Hyperactivity, Cataract, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Aggr... ORPHA:401973
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Cryptorchidism, Abnormal rib morpholog... ORPHA:3301
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the tonsil... ORPHA:93473
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Metaphyseal chondrodysplasia... OMIM:260400
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abn... ORPHA:800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Adrenal hypoplasia, Loss of ambulation, Ulnar deviation of the h... OMIM:214100
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Shprintzen-Goldberg Craniosynostosis Syndrome
Pes planus, Arachnodactyly, Genu recurvatum, Craniosynostosis, Micrognathia, Metatarsus adductus,... OMIM:182212
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Cataract, Ataxia, Single transverse palmar crease, Uplifted earlobe, ... ORPHA:251009
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... OMIM:180860
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, ... OMIM:601076
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle w... ORPHA:99947
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... OMIM:300963
Ritscher-Schinzel Syndrome 1
Syndactyly, Missing ribs, Hemivertebrae, Micrognathia OMIM:220210
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Po... ORPHA:899
Roifman-Chitayat Syndrome
Cone-shaped epiphysis, Short metacarpal, Short metatarsal, Short neck OMIM:613328
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Short th... ORPHA:50945
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Patent ductus arte... OMIM:616894
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... OMIM:216550
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand muscle weakness, Optic ... ORPHA:254886
Acrofrontofacionasal Dysostosis
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysi... ORPHA:1784
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ... ORPHA:333
Warburg Micro Syndrome 1
Failure to thrive, Overlapping toe, External genital hypoplasia, Cryptorchidism, Optic atrophy, D... OMIM:600118
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, Precoc... ORPHA:163681
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation de... ORPHA:1005
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ... OMIM:311900
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Inappropriate ant... ORPHA:79330
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:174300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... OMIM:619269
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Lo... OMIM:612469
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma... ORPHA:1834
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl... OMIM:259600
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En... ORPHA:289157
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Cryptorchidism... ORPHA:2273
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl... OMIM:614701
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Cardiomyo... ORPHA:79312
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Cryptorchidism,... OMIM:617516
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Genu valgum ORPHA:1035
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal finger mo... ORPHA:2636
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Occipital Horn Syndrome
Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac wing, Abnormali... ORPHA:198
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, EE... ORPHA:272
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-to... OMIM:614877
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic atrophy, Depression,... OMIM:619425
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a... ORPHA:52368
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th... ORPHA:488434
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Cataract, Arachnodactyly, Corneal opacity, Ataxia, Abnormal thumb morphology, Cr... ORPHA:2719
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Failure to thrive, Metaphyseal ... OMIM:269920
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Micrognathia ORPHA:2257
Prune1-Related Neurological Syndrome
Cataract, Inability to walk, Optic atrophy, EEG abnormality, Bilateral talipes equinovarus, Low-s... ORPHA:544469
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Sandal gap, Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorch... OMIM:300354
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Blepharocheilodontic Syndrome 1
Clinodactyly, Cutaneous syndactyly OMIM:119580
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... ORPHA:2769
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Genu valgum OMIM:607016
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Fucosidosis
Hepatomegaly, Lipoatrophy, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Failure... ORPHA:349
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... ORPHA:44
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Bowing of the legs,... ORPHA:1855
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Faciocardiomelic Syndrome
Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow chest, Hypop... OMIM:612731
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... ORPHA:246
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand OMIM:300845
Striatonigral Degeneration, Infantile
Choreoathetosis, Failure to thrive, Optic atrophy, Dysphagia OMIM:271930
Martsolf Syndrome 2
Decreased body weight, Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypog... OMIM:619420
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand OMIM:616489
Mend Syndrome
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Cryp... OMIM:300960
Focal Dermal Hypoplasia
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas... ORPHA:2092
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Protruding ear, Clinodactyly of the 5... ORPHA:464306
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... OMIM:619879
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Abnormality of the vertebral column, Short distal phalanx of finger OMIM:302950
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Depression, Gait ataxia, Cardiom... OMIM:619259
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairm... OMIM:310600
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Abnormal mito... OMIM:300438
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, Flexion contr... ORPHA:536471
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Vertebral fusion, Tarsal synostosis, Short neck, Elbow flex... OMIM:178110
Septopreoptic Holoprosencephaly
Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Anterior hypopituitarism... ORPHA:280195
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Micropenis, Abnormal repetitive mannerisms, Hypospadias, Tapered finger, Cryptorc... ORPHA:464311
Cystinosis
Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Type I diab... ORPHA:213
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:300009
Pyknoachondrogenesis
Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Poo... ORPHA:3003
Distal Duplication 17Q
Hallux valgus, Rhizomelia, Overlapping toe, Arachnodactyly, Micrognathia, Cryptorchidism, Genu va... ORPHA:3379
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Atax... OMIM:249270
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,... OMIM:249420
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Inability to walk, Optic atrophy, Hypsarrhythmia, Dysphagia OMIM:617086
Acrocraniofacial Dysostosis
Tapered finger, Coxa valga, Pectus excavatum, Micrognathia, Abnormal form of the vertebral bodies... ORPHA:949
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Short Syndrome
Inguinal hernia, Posterior embryotoxon, Lipodystrophy, Abnormal dental enamel morphology, Corneal... ORPHA:3163
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hearing impairment, Abnormality of the thyroid gland, Self hug... OMIM:182290
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Coxa vara, ... ORPHA:3107
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Pectus excavatum, Small hand, Short palm, Cl... ORPHA:1786
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Hajdu-Cheney Syndrome
Hypospadias, Kyphoscoliosis, Short neck, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ... OMIM:102500
Van Maldergem Syndrome 2
Bifid scrotum, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous fin... OMIM:615546
Choanal Atresia
Polydactyly ORPHA:137914
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... OMIM:600987
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Narrow chest ORPHA:1861
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Leukodystrophy, Hypomyelinating, 21
Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Athetosis, Failure to thrive OMIM:619310
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Pectus excavatum, Hemivertebrae, Scoliosis, Cubitus valgus OMIM:104350
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomeg... OMIM:614866
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges o... OMIM:608612
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger OMIM:312150
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Anterior pituitary hypoplasia, ... OMIM:151050
Marinesco-Sjögren Syndrome
Short palm, Cataract, Ataxia, External genital hypoplasia, Coxa valga, Avascular necrosis of the ... ORPHA:559
Zechi-Ceide Syndrome
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger ORPHA:217017
Melnick-Needles Syndrome
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... OMIM:309350
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... OMIM:618652
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin... ORPHA:2437
Oliver Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... ORPHA:2920
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, At... OMIM:271245
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Ataxia, EEG abnormality, Palmoplantar kerat... ORPHA:578
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Pectus ex... OMIM:618162
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Constricting Bands, Congenital
Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Scoliosis OMIM:217100
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Single transverse palmar crease, Congenital diaphragmatic hernia, C... ORPHA:2409
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... ORPHA:289494
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Pes planus, Sacral dimple, Macroorchidism, Tapered finger, Precocious puberty, Long fingers, Hype... OMIM:619950
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism... ORPHA:1439
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93259
Dpm1-Cdg
Sandal gap, External genital hypoplasia, Micrognathia, Knee flexion contracture, Camptodactyly, L... ORPHA:79322
Refsum Disease, Classic
Short fourth metatarsal, Cataract, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Cardio... OMIM:266500
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Abnormal... ORPHA:1812
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone ... ORPHA:1328
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... ORPHA:1234
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Narrow ch... OMIM:616546
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Micromelia, Hepatosplenomegaly OMIM:273680
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Br... OMIM:614800
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment, Br... OMIM:619422
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... OMIM:620141
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... ORPHA:2072
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Sandal gap, Ataxia, Cryptorchidism, Polyphagia, Self-injuriou... ORPHA:228402
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Unilateral breast hypoplasia, Abnormal cortical gyration, Postaxial polydactyly, T... OMIM:300968
Short Stature-Micrognathia Syndrome
Small scrotum, Rhizomelia, Ventricular septal defect, Penoscrotal hypospadias, Bowing of the legs... OMIM:617164
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... OMIM:609033
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Micrognathi... OMIM:122470
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Au-Kline Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd... OMIM:616580
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Hand polydactyly,... ORPHA:2971
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... ORPHA:435938
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Peters anomaly, Crypto... ORPHA:494344
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Palmar pits, Kyphosis, Pectus excavatum, Plantar pits, Abnormal rib ... ORPHA:77301
Distal Deletion 6P
Atrial septal defect, Posterior embryotoxon, Corneal opacity, Short foot, Self-injurious behavior... ORPHA:96125
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormal fallopian tube mor... ORPHA:2189
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
De Barsy Syndrome
Inguinal hernia, Cataract, Ventricular septal defect, Lipodystrophy, Corneal opacity, Congenital ... ORPHA:2962
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Infantile Systemic Hyalinosis
Camptodactyly of finger, Micromelia, Short neck, Polycystic ovaries, Abnormality of the adrenal g... ORPHA:2176
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Retinal detachment, Cataract, Corneal opacity OMIM:613153
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Upper limb hypertonia, Emotional lability OMIM:613672
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Hypospadias, Down-sloping shoulders, Short neck, Pectus excavatum, ... OMIM:304110
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger OMIM:253290
Trisomy 10P
Thumb contracture, Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnor... ORPHA:171929
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm ORPHA:73246
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Micrognathia, Bilateral cryptorchidism, Central Y-shaped metac... ORPHA:2754
Meckel Syndrome
Sclerocornea, Asplenia, Microcornea, Accessory spleen, Low-set, posteriorly rotated ears, Abnorma... ORPHA:564
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Hypert... ORPHA:391428
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Inability to walk, Optic atrophy, Protruding ear, Talipes equinovarus, Joint contractur... OMIM:617481
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation, ... OMIM:618241
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Inability to walk, Multifocal epileptiform discharges, Limb ataxia, Hy... OMIM:617166
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Pectu... OMIM:617137
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... ORPHA:3255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly ORPHA:60040
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly OMIM:611561
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Uplifted earlobe, Tapered finger, Optic atrophy, Protruding ear, Prominent ant... OMIM:615722
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased testicular size, Overlapping toe, Broad hallux, Underdeveloped superior crus of antihel... ORPHA:293967
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Restlessness, Hyperactivity, Failure to thrive, Aggressive behavior, C... OMIM:300534
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Overlapping toe, Single transverse palmar crease, Tapered finger, Optic atrophy... OMIM:617807
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Metatarsus adductus, Splenomegaly... OMIM:253220
Ellis Van Creveld Syndrome
Hypospadias, Micromelia, Epispadias, Cryptorchidism, Capitate-hamate fusion, Short thorax, Genu v... ORPHA:289
Diencephalic Syndrome
Cachexia, Long penis, Optic atrophy, Large hands, Decreased body weight, Abnormality of the hypot... ORPHA:1672
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Hypoplastic labia minora, Hypoplastic labia majora, Talipes equinovarus, Scoli... OMIM:619124
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... OMIM:266920
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Microphthalmia, Lenz Type
Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finger, Hyperlordosis, Kyphosis... ORPHA:568
19P13.12 Microdeletion Syndrome
Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the 5th finger, ... ORPHA:254346
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous ... ORPHA:276422
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Mirage Syndrome
Decreased body weight, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Adrenal h... OMIM:617053
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Iris hypopigmentation, Camptodactyly of finger,... ORPHA:284160
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flappi... OMIM:615516
Hypertrichosis Cubiti
Abnormality of the elbow, Rhizomelia, Micromelia ORPHA:2220
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Adrenal medullary hypoplasia, Depression, Genu valgum, Astigmatism OMIM:248000
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Clinodactyly, Hypothyroidism, Simplified gyral pattern, Limb u... OMIM:616541
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, C... OMIM:607015
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment... OMIM:109120
Mosaic Trisomy 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Finger clinodactyly, Micropenis... ORPHA:1692
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... ORPHA:1381
Histidinuria Due To A Renal Tubular Defect
Short middle phalanx of finger, Rounded middle phalanx of finger OMIM:235830
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Aggressive behavior, Sensorineural hearing impairment, Split hand, Optic at... OMIM:614707
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Long fingers... ORPHA:363686
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ... ORPHA:254881
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin metatars... ORPHA:2463
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Morquio Syndrome C
Corneal opacity OMIM:252300
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Macrocytic anemia, Cataract, Diabetes mellitus, Morning glory anomaly, Ataxia, ... ORPHA:98673
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... OMIM:606851
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt... OMIM:619339
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Opacificati... OMIM:308100
Behr Syndrome
Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Truncal ataxia, Hypoplastic op... OMIM:210000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Hyperopic astigmatism, Obesit... ORPHA:397973
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Short thumb, Sensorineural hearing impairment, Broa... ORPHA:2712
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Fatigable weakness, ... ORPHA:42
Sarcosinemia
Ataxia, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic stenosis, Emotional l... ORPHA:3129
Congenital Varicella Syndrome
Micromelia ORPHA:291
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Joubert Syndrome 39
Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Insensitivity To Pain, Congenital, With Anhidrosis
Autoamputation of digits, Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal... OMIM:256800
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, ... ORPHA:251066
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... OMIM:610682
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Abnormal nerve con... ORPHA:93474
Kid Syndrome
Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla... ORPHA:477
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... OMIM:617527
Cloacal Exstrophy
Hypoplasia of penis, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula mor... ORPHA:93929
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... ORPHA:783
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... ORPHA:989
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cataract, Single transverse palmar crease, Aggressive behavior, Cr... OMIM:608093
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Pectus excavatum, Broa... OMIM:227330
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... OMIM:615789
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... ORPHA:324737
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... ORPHA:363400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decrease... OMIM:614170
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Micrognathia, Scoliosis OMIM:616038
Incontinentia Pigmenti
Finger syndactyly, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Camptodactyly... ORPHA:464
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Dilate... OMIM:618805
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Cryptorchidism, Abnormal p... ORPHA:93271
Tetrasomy 9P
Joint dislocation, Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis, Pachygyr... ORPHA:3310
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Ventric... OMIM:615673
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Hernia, Atrial septal def... ORPHA:280
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... ORPHA:168491
Triploidy
Omphalocele, Finger syndactyly, Hepatomegaly, Low-set, posteriorly rotated ears, Hypoplasia of pe... ORPHA:3376
Tarsal Coalition
Tarsal synostosis OMIM:186850
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Patent ductus arterios... OMIM:618188
Alg8-Cdg
Elevated hepatic transaminase, Cataract, Abnormality of subcutaneous fat tissue, Small for gestat... ORPHA:79325
Mucopolysaccharidosis Type 7
Inguinal hernia, Corneal opacity, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippl... ORPHA:584
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hyperactivity, Aggressive b... ORPHA:85293
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi... OMIM:269150
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Ataxia, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic a... ORPHA:254913
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Narrow chest, Short palm, Clin... OMIM:217980
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Hyperextensibility of the knee, Micrognathia, Elevated circulating thyroid-stimula... OMIM:601812
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Diabetes mellitus, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosi... OMIM:606069
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Posteriorly rotated ears, Ataxia, Coxa valga, Aggressive behavior, ... OMIM:619833
Warburg Micro Syndrome 3
Small scrotum, Cataract, Inability to walk, Hypoplastic labia minora, Flexion contracture, Optic ... OMIM:614222
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Short neck ORPHA:110
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Short... OMIM:256520
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck ORPHA:178303
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal ... OMIM:180700
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... ORPHA:2752
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Broad palm, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, ... OMIM:277600
Congenital Disorder Of Glycosylation, Type Id
Failure to thrive, Long fingers, Macrotia, Flexion contracture, Optic atrophy, Hypsarrhythmia, Ta... OMIM:601110
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segmentation defect, Clino... ORPHA:373
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Flexion contracture, Optic atrophy, Irritability, Failure ... OMIM:607196
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... ORPHA:261112
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short neck, Small hand, Short... ORPHA:1001
Kapur-Toriello Syndrome
Cataract, Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Sh... OMIM:244300
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Severe Congenital Nemaline Myopathy
Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb ORPHA:171430
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Atrial septal defect, Posterior embryotoxon, Ventricular septal defect, Rocker bottom ... OMIM:612582
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, 2-3 toe cutaneous syn... OMIM:609625
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Weight loss, Cardiomyopathy, Impotence, Abnormal autonomic nervo... ORPHA:85447
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa... OMIM:614976
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Abnormal heart morphology, Depression, Pigmentary ... ORPHA:79264
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93260
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Irritability, Joint contra... OMIM:616881
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cataract, Asymmetry of the ears, Cryptorchidism, Flexion contract... OMIM:614225
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Pectus excavatum, Ky... ORPHA:193
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Pes cavus, Scoliosis OMIM:609195
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum, Broad palm OMIM:618505
Ruijs-Aalfs Syndrome
Cataract, Lipodystrophy, Single transverse palmar crease, Down-sloping shoulders, Posterior subca... OMIM:616200
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance ORPHA:3151
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Overlapping toe, Inability to walk, Flexion contracture, Optic atrophy, Gait ataxia... OMIM:619383
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovaru... ORPHA:1154
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Heterochromia iridis, Short-segment a... OMIM:609136
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Pectus carinatum OMIM:616430
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Sensorineural... OMIM:612674
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of... ORPHA:544488
Transketolase Deficiency
Hepatomegaly, Cataract, Ventricular septal defect, Abnormal repetitive mannerisms, Secondary amen... ORPHA:488618
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:79444
Recessive X-Linked Ichthyosis
Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... OMIM:603896
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... ORPHA:3138
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Diabetes mellitus, Optic atrophy, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar... ORPHA:1177
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum ORPHA:1295
Combined Oxidative Phosphorylation Deficiency 8
EEG abnormality, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly OMIM:614096
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Tapered finger, Cryptorchidism, Short toe, Large ea... ORPHA:127
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... ORPHA:818
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Micrognathia ORPHA:314655
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Ap... ORPHA:457284
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Hepatomegaly, Inguinal hernia, Cataract, Rhizomelia, Supern... OMIM:614376
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Opacification of the c... OMIM:205400
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Ataxia, Splenomegaly, Sensorineu... ORPHA:773
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Failure to thrive, Anemia OMIM:615085
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... OMIM:251290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Elevated hepatic transaminase, Cataract, Tapered toe, Posteriorly rotated... OMIM:608836
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Congenital hip dislocation, Corneal opacity, Ataxia, Inability to walk, Athetosi... ORPHA:357058
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive... ORPHA:401777
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ... ORPHA:254528
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Inability to walk, Flex... OMIM:615663
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
3C Syndrome
Finger syndactyly, Micrognathia, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Hand polydact... ORPHA:7
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Single transverse palmar crease, Thrombocytopenia, Eleva... OMIM:620185
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Retinal dystrophy, Anorexia, Megaloblastic anemia, ... ORPHA:49827
Pyruvate Dehydrogenase E1-Alpha Deficiency
Talipes, Single transverse palmar crease, Limb undergrowth, Polymicrogyria, Pes cavus ORPHA:79243
Pitt-Hopkins Syndrome
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cr... ORPHA:2896
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... OMIM:305600
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Limb undergrowth, Hypothyroidism OMIM:618005
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of... ORPHA:2163
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Oculomaxillofacial Dysostosis
Brachydactyly, Corneal opacity, Camptodactyly of finger, Abnormality of the humerus, Adducted thumb ORPHA:1794
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Restlessness, Corneal opacity, Single transverse pal... OMIM:615273
Neu-Laxova Syndrome
External genital hypoplasia, Micromelia, Abnormal cortical gyration, Micrognathia, Abnormality of... ORPHA:2671
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Upper l... OMIM:607259
X Small Rings
Toe syndactyly, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous... ORPHA:96201
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... ORPHA:363958
Distal Monosomy 7Q36
Hypoplasia of penis, Cryptorchidism, Optic atrophy, Symphalangism affecting the phalanges of the ... ORPHA:1636
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Triple A Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Palmoplantar keratoderma, Adrenal insuff... ORPHA:869
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Axonal loss, Shoulder dislocation, ... ORPHA:404454
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Failure to thrive, Cataract, Abnormal pulmonary valve morpholog... ORPHA:974
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Cataract, Corneal opacity, Ataxia, Sen... ORPHA:309282
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... ORPHA:79237
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Cataract, Diabetes mellitus, Abnormality of the thyroid gland, D... OMIM:609286
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Upper limb hypertonia, Emo... ORPHA:254343
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Vater/Vacterl Association
Syndactyly, Hypospadias, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of the ... OMIM:192350
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Hearing impairment, Retrobulbar optic neuritis, Splenom... ORPHA:1451
Neurofibromatosis Type 1
Multiple lipomas, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofib... ORPHA:636
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... ORPHA:280234
Legius Syndrome
Ovarian neoplasm, Diaphyseal dysplasia, Abnormal sternum morphology, Polydactyly, Male urethral m... ORPHA:137605
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cataract, Cryptorchidism, Sensorineural he... ORPHA:250989
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ... ORPHA:794
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Poster... OMIM:610377
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Inability to walk, Flexion contracture, Astigmatism, Upper limb hypertonia OMIM:619328
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Abno... ORPHA:2323
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal ... ORPHA:324
Fg Syndrome 3
Hyperactivity, Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Joint contracture,... OMIM:300406
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impai... OMIM:614230
X-Linked Intellectual Disability, Najm Type
Failure to thrive, Cataract, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atro... ORPHA:163937
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly, Scoliosis ORPHA:2169
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Hypospadias, Supernu... ORPHA:217346
Dpagt1-Cdg
Flexion contracture, Diffuse optic disc pallor, Hepatomegaly, Arachnodactyly, Ataxia, Hypsarrhyth... ORPHA:86309
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Hernia, Neu... OMIM:617052
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Abnormal thorax morphology, Short femor... ORPHA:1708
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial p... OMIM:614576
Codas Syndrome
Short metacarpal, Cataract, Ventricular septal defect, Abnormal dental enamel morphology, Congeni... ORPHA:1458
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Angelman Syndrome
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Precocious puberty in females, A... ORPHA:72
Gaucher Disease
Cherry red spot of the macula, Hepatomegaly, Ataxia, Abnormal pericardium morphology, Hepatitis, ... ORPHA:355
Abetalipoproteinemia
Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Hypothyroidism, Hepatic st... ORPHA:14
Cln5 Disease
Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns... ORPHA:228360
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Truncal at... OMIM:601338
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor... ORPHA:448237
Occipital Horn Syndrome
Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fu... OMIM:304150
Aicardi Syndrome
Block vertebrae, Missing ribs, Precocious puberty, Delayed puberty, Small hand, Rib fusion, Hip d... ORPHA:50
Stüve-Wiedemann Syndrome
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Metaphyseal widenin... ORPHA:3206
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Ataxia, Abnormal pupil ... ORPHA:1764
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Cryptorchidism, Short toe, Patent ductus arteriosu... OMIM:139210
Helsmoortel-Van Der Aa Syndrome
Pes planus, Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Tape... OMIM:615873
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Craniorachischisis
Bifid sternum, Sirenomelia ORPHA:63260
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Limb undergrowth, Short toe, Short phalanx of finger, Micrognathia OMIM:225410
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Hypsarrhythmia, EEG with multifocal slow activ... ORPHA:442835
Alkuraya-Kucinskas Syndrome
Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Talipes equinovaru... OMIM:617822
Muckle-Wells Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Conjunctivitis, Delayed puber... ORPHA:575
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Sclerocornea, Cataract, Obesity, Aniridia,... ORPHA:251038
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Split hand, Flat acetabular roof,... OMIM:252500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ... ORPHA:371428
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukop... ORPHA:27
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, ... OMIM:613457
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Flexion contracture, Optic atro... ORPHA:35069
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Ataxia, Supernumerary nipple,... ORPHA:1173
Distal Deletion 13Q
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Primary adrenal insuffic... ORPHA:1590
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, External genital hypoplasia, Postaxial polydactyly, Camptod... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an... OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Cholelithiasis, Tapered finger, Precocious puberty, Hyperlordosis, Hip dislocation, G... OMIM:301066
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Atrial septal de... OMIM:300166
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Atrial se... ORPHA:363528
Desmosterolosis
Talipes, Micromelia, Abnormal cortical gyration, Metatarsus adductus, Micrognathia, Patent ductus... ORPHA:35107
C Syndrome
Joint dislocation, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Tal... ORPHA:1308
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Depression, Pigmentary ret... ORPHA:79095
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Scoliosis, Ovarian serous c... ORPHA:276280
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Irritability, L... ORPHA:401866
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Short metacarpal, Brachydactyly, Pseudoepiphyses of the meta... ORPHA:192
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... OMIM:101200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Limb Body Wall Complex
Ventral hernia, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia... ORPHA:2369
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to w... ORPHA:95
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Decreased serum insulin-like growth factor 1, Cryptorchidism, Bulimia, 2-3 toe... ORPHA:314389
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, R... ORPHA:363741
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... OMIM:601358
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger ORPHA:521445
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... OMIM:180849
White-Sutton Syndrome
Congenital diaphragmatic hernia, Tics, Atrial septal defect, Abnormal repetitive mannerisms, Pate... OMIM:616364
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Cole-Carpenter Syndrome 2
Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... ORPHA:2008
Oculodentodigital Dysplasia
Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Camptodactyly of finger, Short h... ORPHA:2710
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Hip dislocation, Protruding ear, Developmental cataract, Talipes equinovarus, Lo... OMIM:616603
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Corneal opacity, Ab... ORPHA:1830
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Fryns Syndrome
Omphalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Hypospadias, Congenital di... ORPHA:2059
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... OMIM:618529
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcorn... OMIM:243605
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Conductive he... OMIM:601808
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardio... OMIM:614702
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia ORPHA:1908
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Broad palm, Elbow flexion contracture, ... OMIM:608328
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Deviation of the 2... ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineu... OMIM:617713
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Th... ORPHA:525731
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Optic atrophy, ... OMIM:615236
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu... ORPHA:66634
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... OMIM:245600
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... ORPHA:2753
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis, Hemiatrophy ORPHA:2874
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathia, Short nec... ORPHA:263508
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... ORPHA:158687
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal... OMIM:601707
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Pectus excavatum, Micrognathia, Postaxial h... OMIM:613610
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... OMIM:614294
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal ... ORPHA:666
Spondyloocular Syndrome
Long toe, Retinal detachment, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Posterio... OMIM:605822
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Truncal ataxia, Secondary amenorrh... OMIM:258450
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Metaphyseal widening, Flexion contracture, Optic atrophy, Clubbing, T... OMIM:617303
Aspartylglucosaminuria
Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, B... OMIM:208400
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
2P15P16.1 Microdeletion Syndrome
Protruding ear, Bilateral single transverse palmar creases, Facial palsy, Tapered finger, EEG abn... ORPHA:261349
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... ORPHA:404448
Hallermann-Streiff Syndrome
Abnormality of the hand, Hyperlordosis, Pectus excavatum, Cryptorchidism, Metaphyseal widening, M... OMIM:234100
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Cataract, Ventricular septal defect, Hearing impairment, Sensorineural hear... OMIM:220500
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Atria... OMIM:619239
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Ataxia, Axonal ... ORPHA:88628
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped e... ORPHA:2399
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypo... OMIM:601186
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:79443
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Pectus excavatum, Hypothyroidism, Patent ductus arteriosus, Hip dislocation, Abs... OMIM:618268
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Failure to thrive, Femur fracture, Facial palsy, Splenomegaly, Thromb... OMIM:259700
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Periventricular heterotopia, Micrognathia, Epispadias, Cryptorch... OMIM:615948
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Ataxia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Card... OMIM:620089
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Vertebral f... OMIM:194190
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Galactosemia I
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Jaberi-Elahi Syndrome
Broad-based gait, Cataract, Inability to walk, Optic atrophy, Dysmetria, Protruding ear, Choreoat... OMIM:617988
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Congenital diaphragmatic hernia, Dysmetria, Abnormal optic disc ... ORPHA:96121
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus ORPHA:746
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Micrognathia, Long fingers, Pectus ... OMIM:611174
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic a... OMIM:618651
Vitamin K Antagonist Embryofetopathy
Cataract, Hearing impairment, Optic atrophy, Epiphyseal stippling, Microtia, Short distal phalanx... ORPHA:1914
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile... ORPHA:456328
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait dis... ORPHA:216866
Pelvis-Shoulder Dysplasia
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas... OMIM:169550
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Conductive hearing impa... ORPHA:1606
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contracture, Elevated circulating t... OMIM:256040
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Hearing impairment, Optic atrophy, Right ve... OMIM:614261
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Ataxia, Tapered finger, Inability to walk, Optic atrophy, Dysmetria, Astigmatism, Dysphagia, Clin... OMIM:619576
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... OMIM:303600
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, ... OMIM:619487
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Scoli... ORPHA:522077
Leigh Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Hepatocellular necrosis, Pigmentary reti... OMIM:256000
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Hip dysplasia, Camptodac... ORPHA:412035
Chime Syndrome
Ventricular septal defect, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalange... ORPHA:3474
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Sclerocornea, Epispadias, Vitritis, Ret... ORPHA:2556
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacificati... OMIM:601499
Trisomy 18
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormali... ORPHA:3380
Fucosidosis
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Vacuolated lymphocytes... OMIM:230000
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... OMIM:208150
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Bohring-Opitz Syndrome
Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomel... OMIM:605039
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag... OMIM:309801
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age, Hypoplastic scapulae, Femoral retroversion, Sensorineural he... OMIM:607371
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... OMIM:617809
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hemivertebrae, Ri... OMIM:304050
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Dysphagia, Rod-... OMIM:252930
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Intrahepatic cholestasis, Postaxial ... ORPHA:46059
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist flexion contra... OMIM:268300
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Aggressive behavior, Co... ORPHA:495875
Cerebrocostomandibular Syndrome
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger... ORPHA:508498
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical... OMIM:157800
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Umbili... OMIM:252900
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagi... OMIM:612379
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Failure to thrive, Rhizomelia, Optic nerve hypoplasia, Cataract, ... OMIM:222765
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joint morphology, Enlargeme... ORPHA:289176
Marfan Syndrome
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Kyphosc... OMIM:154700
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Depression, Protruding ear, EEG abnormality, Hip dysplas... OMIM:618798
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Anemia, Choreoathetosis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Macrodactyly
Macrodactyly OMIM:155500
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Hearing impairment, Cardiomegaly ORPHA:3137
Fryns Syndrome
Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Single transverse palma... OMIM:229850
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac... ORPHA:99956
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi... ORPHA:3472
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Optic atrophy, Polycystic... ORPHA:137675
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... OMIM:609465
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Fatigable weakness of swallowing mus... ORPHA:436271
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, A... OMIM:601853
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, Sagittal cranio... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, Sagittal cranio... ORPHA:352665
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... OMIM:613001
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hyperactivity, Overlapping toe, Single transverse palmar crease, Posteriorly rotat... OMIM:619148
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, M... OMIM:305450
Chops Syndrome
Cataract, Ventricular septal defect, Hearing impairment, Splenomegaly, Cryptorchidism, Optic atro... OMIM:616368
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopeni... OMIM:242900
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Protruding ear, Lentiglo... ORPHA:534
Glutamine Deficiency, Congenital
Micromelia, Camptodactyly OMIM:610015
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cuta... OMIM:270400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Short palm, Conductive hearing impairment, Atrial septal defect, Hyp... OMIM:235510
Coach Syndrome 1
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Ataxia, Portal hypertension, Sple... OMIM:216360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Cardiomegaly ORPHA:88643
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Single transverse palmar crease, Ataxia, Decreased nerve conduct... OMIM:614863
Tangier Disease
Orange discolored tonsils, Peripheral axonal neuropathy, Corneal opacity, Chronic noninfectious l... ORPHA:31150
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Dysmetria, Protruding ear, Compulsive b... ORPHA:904
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Peters Plus Syndrome
Micromelia, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Conductive hearing impair... ORPHA:709
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Flared iliac wing, Ataxia, Opacification of the corneal stroma OMIM:230650
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Abnormality of the uterus, Triph... ORPHA:84
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Cerebellofaciodental Syndrome
Cataract, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Aggressive ... OMIM:616202
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Conductive hearing impairment,... ORPHA:353281
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, EEG with burst suppr... OMIM:606056
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... ORPHA:261323
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... ORPHA:293603
Stt3B-Cdg
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Ataxia, Cardiomegaly, Hepatosplenomegaly, Impotence, Cherr... OMIM:268800
Charge Syndrome
External genital hypoplasia, Abnormal palmar dermatoglyphics, Decreased response to growth hormon... OMIM:214800
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, T... OMIM:620025
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Hyperlordosis, Palmoplantar hyperkeratosis, Bila... ORPHA:3253
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic failure, Hepatosple... OMIM:608013
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Opa... OMIM:215250
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Abnormality of th... ORPHA:1556
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c... OMIM:615434
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Hypospadias, Cryptorchidism, Flexion contracture... OMIM:147791
Olmsted Syndrome 1
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi... OMIM:614594
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... ORPHA:2334
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... ORPHA:268
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... ORPHA:98794
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Ataxia, Pseudobulbar paralysis, Abnormality of central somatosensory... OMIM:213700
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Facial palsy, Hearing impairment, Optic atrophy, Genu valgum, Abno... ORPHA:53
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Takenouchi-Kosaki Syndrome
Inguinal hernia, Overlapping toe, Posteriorly rotated ears, Proximal placement of thumb, Tapered ... OMIM:616737
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Acute hepatic failure, Elevated circulating a... OMIM:277900
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Amyloid dep... OMIM:105210
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Hyperactivity, Restlessness, Epiphyseal dysplasia, Aggressive beha... OMIM:252940
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... OMIM:256540
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Postaxial hand ... OMIM:213300
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Prader-Willi Syndrome
Syndactyly, Kyphosis, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia... OMIM:176270
Kagami-Ogata Syndrome
Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Bell-shaped thorax, Coat hanger sign of rib... ORPHA:254519
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, B... ORPHA:83617
Cockayne Syndrome
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Progressive gait ataxia, Re... ORPHA:191
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait, Optic at... OMIM:618493
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... OMIM:240300
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Raine Syndrome
Bowing of the long bones, Micromelia, Short neck, Pectus excavatum, Micrognathia, Long hallux, Th... OMIM:259775
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Impulsivity, Acanthocytosis, Fractures of the long bones, Optic atrophy, ... ORPHA:157850
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Progressive sensori... OMIM:607115
Poems Syndrome
Papilledema, Diabetes mellitus, Lipodystrophy, Metaphyseal sclerosis, Pericardial effusion, Hypot... ORPHA:2905
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Decreased fibular diameter, Micrognathia, Pectus excavatum, Osteolytic defects of the... OMIM:619127
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Addictive al... ORPHA:57777
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb... OMIM:250100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb ORPHA:2211
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect... OMIM:618727
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary hypoplasia, Miss... OMIM:206900
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Ocular anterior se... OMIM:615145
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Single transverse pa... ORPHA:508488
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Cryptorchidism, Abnormal tibia morphology,... ORPHA:138
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ... ORPHA:264200
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, ... OMIM:309900
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing... ORPHA:1974
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Cryptorchidism, Iris c... ORPHA:77298
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Spleno... OMIM:259720
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypospadias, Abnormal mitochondrial shape, Patent ductus arteriosus, ... ORPHA:17
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Short ... OMIM:311200
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... OMIM:618052
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Cerebrofacioarticular Syndrome
Syndactyly, Micrognathia, Talipes equinovarus, Camptodactyly, Caudal appendage ORPHA:314679
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Retinal atrophy, Ulnar deviation of the wrist, Cardiomegaly, I... ORPHA:97297
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Failure to thrive, Arachnodactyly, Hypospadias, Ataxia, Coxa valga, Elbow disl... OMIM:620083
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... ORPHA:2969
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Prolonged neonatal jaundice, Dysph... OMIM:618868
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Large hands,... ORPHA:500095
Congenital Fibrosis Of Extraocular Muscles
Polymicrogyria, Hypogonadotropic hypogonadism, Hand oligodactyly ORPHA:45358
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... OMIM:236700
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... ORPHA:100924
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly OMIM:200995
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Single transverse palma... OMIM:607932
Agel Amyloidosis
Cataract, Ataxia, Facial palsy, Depression, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal ... ORPHA:85448
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis OMIM:602562
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Kyphosis, Abnormal finger m... ORPHA:2658
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Classic Homocystinuria
Elevated hepatic transaminase, Retinal detachment, Abnormality of retinal pigmentation, Hepatomeg... ORPHA:394
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis ... ORPHA:353277
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Neurocardiofaciodigital Syndrome
Syndactyly, Optic disc pallor, Failure to thrive, Small for gestational age, Cataract, Sclerocorn... OMIM:619869
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Decreased body mass ind... ORPHA:247585
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Micropenis, St... ORPHA:798
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Lower limb asymmetry, Scoliosis, Clin... ORPHA:96182
Khan-Khan-Katsanis Syndrome
Sacral dimple, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Micrognathi... OMIM:618460
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Thoracolumbar scoliosis, Tapered finger, Cyst of the ductus choledoch... ORPHA:480880
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmati... ORPHA:468678
Distal Deletion 12Q
Single transverse palmar crease, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the... ORPHA:96149
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormal long bone morphology, Ar... ORPHA:228123
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Precocious puberty, Abnormal finger morphology, Corneal opacity OMIM:163200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Patent foramen ... OMIM:620005
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Fraser Syndrome 3
Short toe, Micrognathia, Cutaneous syndactyly OMIM:617667
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Irritability, Cholestatic liver dise... ORPHA:92050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tics, Chor... OMIM:619475
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly OMIM:615877
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carryi... OMIM:247410
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla... ORPHA:1521
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive ORPHA:99931
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy OMIM:619051
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Short neck, Clinodactyly of the... ORPHA:1587
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Limb joint contracture, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetos... OMIM:617282
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Conductive hearing imp... ORPHA:567
Tay-Sachs Disease
Precocious puberty, Inability to walk, Optic atrophy, Dysmetria, Hepatosplenomegaly, Depression, ... ORPHA:845
Peters-Plus Syndrome
Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place... OMIM:261540
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ... ORPHA:2715
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Hypoplasia o... OMIM:251300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Abnormality... ORPHA:847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... OMIM:614643
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Cataract, Bilobate gallbladder, Increased mean pla... OMIM:607330
Cockayne Syndrome Type 3
Flexion contracture, Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Cond... ORPHA:90324
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Micropenis, Hypopigmentation of the fundus, Finger syndactyly, Hy... OMIM:200990
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Degcags Syndrome
Syndactyly, Sacral dimple, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorch... OMIM:619488
Mullegama-Klein-Martinez Syndrome
Pes planus, Micrognathia, Polydactyly, Scoliosis, Clinodactyly of the 5th finger OMIM:301022
Dextrocardia
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormal foot morphology, Ab... ORPHA:1666
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Cryptorchidism, Obesity, Self-injur... OMIM:616078
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Ambiguous genitalia, Cataract, Corneal o... ORPHA:1052
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... OMIM:614921
Meningioma
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... ORPHA:2495
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata... ORPHA:2510
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... ORPHA:2907
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Clinodactyly of the 5th fing... OMIM:619539
Loeys-Dietz Syndrome 2
Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... OMIM:610168
Craniofaciofrontodigital Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism, Abnormal metacarpal morphology, Conductive hearing impairment, Umbilic... ORPHA:2095
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Abn... ORPHA:85451
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand muscle weakn... ORPHA:101076
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Abnormal dental enamel morphology, Sensori... ORPHA:886
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Missing ribs, Short... ORPHA:2308
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypospadias, Corneal opacity, Cryptor... OMIM:219000
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, EEG abn... OMIM:261680
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomeg... OMIM:615688
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Delayed peripheral myelination, Hearing impairment, Aplasia of the distal phalan... ORPHA:364577
Alagille Syndrome 1
Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol... OMIM:118450
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Cataract, Ataxia, Optic atrophy, Gait ataxia, EEG abnormality, Ambi... ORPHA:543470
Schisis Association
Micromelia ORPHA:63862
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal epiphysis morphology, A... ORPHA:667
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo... OMIM:107480
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Clinodactyly of the 5th... ORPHA:96123
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Multiple joint contractures, Sensorineural hearing impairment, Vestibular areflexia, Optic atroph... ORPHA:504476
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Sensorineural hearing impairment, ... OMIM:220110
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Hyperactivity, Failure to thrive, Retinal dystrophy, Posteriorly rotated ea... OMIM:619512
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Flexion contracture, Optic atrophy, Elbow flexion contracture, ... OMIM:617301
Fraser Syndrome 2
Short thorax, Short neck, Cutaneous syndactyly OMIM:617666
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Impulsivity, Optic atrophy, Dep... OMIM:614298
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... ORPHA:2750
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Spl... OMIM:615512
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, ... OMIM:619167
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Thumb contracture, Low-set, posteriorly rotated ears, Bifid scrotum, Retinal dystr... ORPHA:324540
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Inability to walk, Flexion contracture, Elevated circulating alanine ... ORPHA:365
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... ORPHA:2714
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Absence of subcutaneous fat, Short clavicles, Shuffling gait, Mitr... ORPHA:740
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Optic atrophy, Dystonic gait, EEG abnormality, Astigmatism, Prominent ... ORPHA:480898
Benign Schwannoma
Abnormal fibula morphology ORPHA:252164
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin... OMIM:225400
Kindler Epidermolysis Bullosa
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, P... ORPHA:2908
Wolfram Syndrome
Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Sensorineural hearing impairment, Optic... ORPHA:3463
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Cardi... ORPHA:51
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anis... OMIM:618278
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture OMIM:612301
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsiv... OMIM:300967
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... OMIM:227650
Cerebrooculonasal Syndrome
Craniosynostosis, Postaxial hand polydactyly, Postaxial polydactyly, Hypoplastic male external ge... OMIM:605627
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
Early Infantile Epileptic Encephalopathy
Hyperactivity, Failure to thrive, Ventricular septal defect, Precocious puberty, EEG with burst s... ORPHA:1934
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Ataxia, Obesity, Pigmentary retinopathy, Prolonged neonatal jaun... OMIM:612291
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ataxia, Premature thelarche, Oral-pharyngeal dysphagia, Sensorineu... OMIM:616878
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, A... OMIM:614947
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Posteriorly rotated ears, Corneal opacity, Aplasia of the distal phala... OMIM:608670
Dysosteosclerosis
Coarse metaphyseal trabecularization, Ventricular septal defect, Abnormal dental enamel morpholog... ORPHA:1782
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Melas
Hypothyroidism, Hypoparathyroidism, Hypogonadotropic hypogonadism, Ataxia, Dilated cardiomyopathy... ORPHA:550
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Anterior cortical c... ORPHA:67036
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Keratitis, Sensorineural hearing impairment, Axonal degeneratio... OMIM:278800
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger, Conductive hearing i... OMIM:607872
Behçet Disease
Pericarditis, Cataract, Ataxia, Anorexia, Orchitis, Retrobulbar optic neuritis, Splenomegaly, End... ORPHA:117
Slc39A8-Cdg
Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of to... ORPHA:468699
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Cholecys... ORPHA:309271
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Optic disc pallor, Inguinal hernia, Rocker bottom foot, Akinesia, Acanthocytos... OMIM:618947
Ablepharon Macrostomia Syndrome
Omphalocele, Hypoplasia of penis, Toe syndactyly, Abnormality of female external genitalia, Campt... ORPHA:920
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Hypos... OMIM:616975
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Cryptorchidism, Sensorineural hearing i... ORPHA:910
Digeorge Syndrome
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... OMIM:188400
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Hepat... ORPHA:2388
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Ataxia, Splenomegaly, Jaundice, Inability to walk, Nucl... OMIM:608885
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long hallux,... ORPHA:261537
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormal heart mor... ORPHA:42775
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochr... OMIM:618775
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Inability to walk, Flexion contracture, Op... ORPHA:505248
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Cataract, Hearing impairment, Thro... ORPHA:508542
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly OMIM:210900
Xeroderma Pigmentosum, Complementation Group B
Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at... OMIM:610651
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Premature ovarian insufficiency, Hearing impairment, Cachexia, Abs... OMIM:610965
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Micrognathia, Oligozoosperm... ORPHA:125
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... OMIM:207800
Friedreich Ataxia
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Hypertrophic cardiomyopathy, ... OMIM:229300
Coffin-Siris Syndrome
Hyperactivity, Ventricular septal defect, Hepatoblastoma, Hypospadias, Aggressive behavior, Crypt... ORPHA:1465
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Chorioretinal co... ORPHA:2162
Elsahy-Waters Syndrome
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... OMIM:211380
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Ataxia, Jaundice, Hepatosplenomegaly, Stomatocytosis, Mac... ORPHA:168577
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... OMIM:614195
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Sensorineural hearing impairment, Optic ... ORPHA:96180
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... OMIM:269200
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Hyperactivity, Ventricular septal defect, Posteriorly rotated ears, Failure to t... OMIM:607721
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Conjunctivitis OMIM:253260
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Inability to walk, Opti... OMIM:617913
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Sensorineural hearing impairment,... OMIM:618329
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Okamoto Syndrome
Prominent metopic ridge, Talipes, Bifid uterus, Hip dysplasia, Polydactyly, Scoliosis ORPHA:2729
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Mowat-Wilson Syndrome
Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long toe, Sy... ORPHA:2152
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Deep palmar crease, Micromelia, Short neck ORPHA:1675
Tyrosinemia Type 2
Palmoplantar keratoderma, Corneal opacity, Ataxia ORPHA:28378
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Palmoplanta... OMIM:231550
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Hypoplastic right heart,... OMIM:617403
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Ventricular septal defect, Posteriorly rotated ears, Coronary sinus ... OMIM:619268
Arboleda-Tham Syndrome
Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, Conjunctivitis, Atrial ... OMIM:616268
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral talipes equinovarus, Rectov... OMIM:619708
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen, ... ORPHA:991
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly, Difficulty walking, Hearing impairment OMIM:232300
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Gapo Syndrome
Keratoconus, Hepatomegaly, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding... OMIM:230740
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Fa... OMIM:618249
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Ataxia, Segmental peripheral demyelination/remyelination, Sensor... ORPHA:255210
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Overlapping toe, Posteriorly rotated ears, Hearing impairment, Tapered finger, Hyp... OMIM:309590
African Trypanosomiasis
Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Hepatomegaly, Abnormality of the endocrine ... ORPHA:3385
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Hepatoblastoma, Posteri... ORPHA:116
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Thoracolumbar sc... OMIM:150230
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... ORPHA:308552
Isolated Complex I Deficiency
Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Optic neuropathy, Sensorineural heari... ORPHA:2609
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Devel... ORPHA:93325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Calcaneovalgus deformity, Pectus carinatum, Webbed penis, Micropenis, Long hallux,... ORPHA:261552
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal ... OMIM:219800
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Arima Syndrome
Hepatomegaly, Retinal dystrophy, Ataxia, Postaxial hand polydactyly, Optic atrophy, Postaxial foo... OMIM:243910
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Overlapping toe, Hypospadias, Proximal placem... ORPHA:487796
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Failure to thrive, Cataract, Ataxia, Cholangitis, Microvesicular h... OMIM:124000
Cohen-Gibson Syndrome
Cataract, Coxa valga, Hypoplastic iliac wing, Long fingers, Cryptorchidism, Flexion contracture, ... OMIM:617561
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Epiphyseal stippling, Hepatic fibr... OMIM:601539
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Corneal opacity, Multiple lipomas, Tricuspid valve prolapse, Aortic valve stenosis... ORPHA:2396
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Pectus excavatum, Short toe, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1519
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Craniosynostosis And Dental Anomalies
Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger OMIM:614188
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Scarring, Atrophic scars, Palmoplantar keratoderma, Enamel hypoplasia, Failure t... ORPHA:79396
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Hypospadias, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphyses of the... OMIM:210730
Dubowitz Syndrome
Syndactyly, Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Clinodactyl... OMIM:223370
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia,... OMIM:610217
Leukocyte Adhesion Deficiency Type Ii
Limb undergrowth, Overlapping toe, Broad palm ORPHA:99843
Blau Syndrome
Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo... ORPHA:90340
Proboscis Lateralis
Cataract, Ventricular septal defect, External genital hypoplasia, Optic nerve hypoplasia, Corneal... ORPHA:141099
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Micrognathia ORPHA:1071
Oculoectodermal Syndrome
Hyperactivity, Supernumerary nipple, Limbal dermoid, Chorioretinal atrophy, Pineal cyst, Microcor... OMIM:600268
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, C... ORPHA:1435
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomeg... OMIM:130650
Rodrigues Blindness
Microcornea, Sclerocornea, Protruding ear OMIM:268320
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Depressi... OMIM:234200
Hartsfield Syndrome
Syndactyly, Ectrodactyly OMIM:615465
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... OMIM:613406
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Autosomal Dominant Cutis Laxa
Inguinal hernia, Corneal opacity, Dilatation of the ventricular cavity, Hip dislocation, Protrudi... ORPHA:90348
Tuberous Sclerosis Complex
Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... ORPHA:805
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Small for gestational age, Developmental cataract, Retinal calci... OMIM:127000
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Adrenal calcification, Cardiomegaly, Abnormal retinal artery morpho... ORPHA:51608
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Optic atrophy... OMIM:613154
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu... OMIM:619321
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... OMIM:158310
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Abnormality of th... OMIM:221800
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Hyperactivity, Impu... ORPHA:642
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Ataxia, Phimosis, Cryptorchidism, Op... OMIM:305000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Optic atrophy, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hyp... OMIM:618164
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial gl... OMIM:261740
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ... OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Fa... OMIM:300952
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Hiatus hernia, Aggr... OMIM:614756
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Small scrotum, Diabetes mellitus, External genital hypoplasia, EEG... OMIM:614231
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, Abnormality iris morphology... ORPHA:91387
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Micropenis, Paroxysmal bursts of laughter, Hyperactivity, Hypospadias, Tapered fin... OMIM:309580
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Kyphos... OMIM:309800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Kyphoscoliosis, Micrognathia OMIM:618820
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Short n... OMIM:601803
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Joubert Syndrome 21
Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Dysphagia, ... OMIM:615636
Leptospirosis
Papilledema, Hepatomegaly, Pericarditis, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymph... ORPHA:509
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... OMIM:267750
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Singleton-Merten Syndrome 1
Waddling gait, Hypoplastic distal radial epiphyses, Mitral valve calcification, Decreased body we... OMIM:182250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Uterine prolapse, Broad-based gait, Bicuspid aortic valve, Ventricular septal ... ORPHA:438213
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Wolfram Syndrome 2
Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Primary ame... OMIM:604928
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina,... OMIM:253280
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... OMIM:137920
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Hypospadias, Keratitis, Cryptorchidism, Post... OMIM:308205
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Fontaine Progeroid Syndrome
Syndactyly, Micrognathia, Deep palmar crease, Absent distal phalanges, Platyspondyly, Scoliosis, ... OMIM:612289
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Patent ductus arteriosus, Broad... OMIM:619534
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Noonan Syndrome 1
Male infertility, Micrognathia, Cryptorchidism, Hypogonadism, Radial deviation of finger, Cubitus... OMIM:163950
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Micropenis, Decrea... OMIM:615287
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hype... ORPHA:79318
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Diabetes ins... OMIM:157170
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight los... ORPHA:520

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 Zbtb16

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 Zbtb16.

No publications found that use IMPC mice or data for Zbtb16.

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MGI Allele Allele Type Produced
Zbtb16tm405544(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zbtb16em1(IMPC)Mbp Exon Deletion Mice, Tissue

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