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Gene: Ift56 MGI:2444853

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Gene Summary

Name:
intraflagellar transport 56
Synonyms:
hydrocephalic-polydactyl,  9430097H08Rik,  hpy,  Ttc26,  hop

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
polydactyly Ift56em1(IMPC)J HOM E18.5 0.00
cleft palate Ift56em1(IMPC)J HOM E18.5 0.00
no spontaneous movement Ift56em1(IMPC)J HET E18.5 0.00
preweaning lethality, complete penetrance Ift56em1(IMPC)J HOM   Early adult 0.00
abnormal body wall morphology Ift56em1(IMPC)J HOM E18.5 0.00
no spontaneous movement Ift56em1(IMPC)J HOM E18.5 0.00
increased grip strength Ift56em1(IMPC)J HET Early adult 1.99×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Ift56 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 Ift56 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Lateral ventricle dilatation, Neonatal death, Broad first metatarsal, Polydactyly, P... OMIM:619534

The table below shows human diseases predicted to be associated to Ift56 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Syndactyly OMIM:241000
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 17
Male infertility OMIM:617214
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
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
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Syngnathia
Cleft palate OMIM:119550
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly OMIM:615983
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Narrow palm, Amenorrhea, Gait disturbance, Infertility, Di... ORPHA:1445
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Short 4th metacarpal, Cubitus valgus, Abnormality of the hypothalamus-pituitary axis... ORPHA:2183
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Abnormal earlobe morphology, Preaxial hand polydactyly, Preaxial foo... OMIM:186350
Kennedy Disease
Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy... ORPHA:481
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Ataxia, Preaxial polydactyly OMIM:614464
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism, Large hands, Preaxial hand polydactyly ORPHA:85287
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Autosomal Recessive Spastic Paraplegia Type 46
Ataxia, Broad-based gait, Difficulty walking, Decreased testicular size, Infertility, Truncal ata... ORPHA:320391
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly OMIM:615984
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Brachydactyly, Syndactyly OMIM:615982
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Masa Syndrome
Ventriculomegaly, Shuffling gait, Talipes equinovarus, Hydrocephalus, Hyperlordosis, Adducted thu... OMIM:303350
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Maternal Uniparental Disomy Of Chromosome X
Rocker bottom foot, Camptodactyly of finger, Azoospermia, Cubitus valgus, Ambiguous genitalia, Pr... ORPHA:261519
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Radioulnar synostosis, Dislocated radial head, Primary gonadal in... ORPHA:99329
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Hydrocephalus, Ataxia OMIM:618709
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Diabetes mellitus, Preaxial hand polydactyly OMIM:601759
48,Xxyy Syndrome
Ataxia, Elbow dislocation, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, ... ORPHA:10
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop... ORPHA:65759
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Ambiguous geni... OMIM:618142
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Increased serum testosterone level,... ORPHA:8
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci... OMIM:601382
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, High palate, Cleft pa... ORPHA:376
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis OMIM:613094
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly, Otosclerosis OMIM:617898
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Bardet-Biedl Syndrome 22
Hypogonadism, Postaxial foot polydactyly, Polydactyly OMIM:617119
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
1Q21.1 Microduplication Syndrome
Cryptorchidism, Talipes equinovarus, Hydrocephalus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Bardet-Biedl Syndrome 16
Hearing impairment, Recurrent otitis media, Polydactyly, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta... OMIM:614500
Laurence-Moon Syndrome
Small scrotum, Polydactyly, Abnormality of the hand, Ataxia, Micropenis OMIM:245800
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Ring Chromosome 22 Syndrome
Impaired pain sensation, Azoospermia, Gait ataxia, 2-3 toe syndactyly, Large hands ORPHA:1446
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Small hand, Decreased response to growth hormone ... OMIM:300845
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Gait disturbance, Hydrocephalus, Adducted thumb, Shoulder dislocation, Scoliosis,... ORPHA:2181
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Postaxial foot polydactyly, Joint contracture of the hand, Broad thumb, Y-shape... OMIM:175700
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Aplasia of metacarpal bones, Small thenar eminence, Slit-like o... OMIM:607323
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Bardet-Biedl Syndrome 8
Hypogonadism, Postaxial polydactyly, Hypospadias OMIM:615985
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Ambiguous genitali... OMIM:615503
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Fried Syndrome
Gait disturbance, Scoliosis, Hydrocephalus ORPHA:85335
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Cleft palate OMIM:258320
Endocrine-Cerebroosteodysplasia
Small scrotum, Sandal gap, Microphallus, Preaxial polydactyly, Micromelia, Fibular bowing, Crypto... OMIM:612651
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
48,Xxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96263
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu... ORPHA:2635
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo... OMIM:146510
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Cleft palate, Coxa valga, Contracture of the distal interphalangeal j... OMIM:216800
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Orofaciodigital Syndrome Xvii
Ventriculomegaly, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Abnormal retinal morphology, Preaxial polydactyly OMIM:614615
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Bilateral cryptorchidism, Preaxial polydactyly, Hand polydactyly, Mesoaxial ... ORPHA:2754
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Abnormal auditory evoked potentials, Irregular epiphyses, Attenuation of ret... OMIM:619260
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplastic female external genitalia, Clinodactyly, Cryptorchidism, Hydrocepha... OMIM:618577
Trisomy 4P
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Cryptorchidism, Hypospadias ORPHA:1738
49,Xxxxy Syndrome
Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul... ORPHA:96264
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Temple Syndrome
Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Cryptorchi... ORPHA:254516
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Developmental And Epileptic Encephalopathy 36
Small hand, Scoliosis, Hydrocephalus OMIM:300884
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... ORPHA:90652
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis OMIM:300886
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, External genital hypoplasia... OMIM:615996
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ... ORPHA:1856
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Bardet-Biedl Syndrome 9
Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydac... OMIM:615986
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Neonatal... OMIM:600501
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesi... OMIM:614091
Dandy-Walker Syndrome
Truncal ataxia, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Cleft palate, Non-midline cleft of the upper lip,... ORPHA:2476
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h... OMIM:216300
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Abnormal form of the vertebral bodies,... ORPHA:2839
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Triceps weakness, Abnormality of the hand, Steppage gait, Hydrocephalus, In... ORPHA:99947
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Posta... OMIM:614175
Huntington Disease-Like 1
Abnormal posturing, Abnormal shoulder morphology, Chorea, Gait ataxia, Dysmetria, Gait disturbance ORPHA:157941
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Broad-based gait, Hydrocephalus OMIM:619470
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter ORPHA:2091
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Achondroplasia
Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Cervical spinal canal stenosis, Shor... ORPHA:15
Houge-Janssens Syndrome 2
Ventriculomegaly, Broad hallux, Inability to walk, Deviation of the 5th finger, Gait ataxia, Post... OMIM:616362
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Cleft palate, Polydactyly OMIM:607361
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Sc... OMIM:615761
20P13 Microdeletion Syndrome
Low-set ears, Hypoplastic helices, Finger syndactyly, Clinodactyly, Retinopathy, Polydactyly, Bra... ORPHA:313781
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Ataxia, Preaxial polydactyly ORPHA:163681
3Mc Syndrome 3
Clinodactyly, Bifid scrotum, Preaxial polydactyly, Cryptorchidism, Radioulnar synostosis, Penoscr... OMIM:248340
Meckel Syndrome, Type 2
Intestinal malrotation, Polydactyly, Bowing of the long bones, Omphalocele, Postaxial hand polyda... OMIM:603194
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial... OMIM:614120
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, Triangular mouth, ... OMIM:607131
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Neonatal death, Hydrocephalus, Hemivertebrae, Postaxia... ORPHA:85284
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Clinodactyly of the 5th finger, High palate, Upper limb asymmetry ORPHA:231140
Thalidomide Embryopathy
Abnormality of the outer ear, Hearing impairment, Preaxial hand polydactyly, Radial club hand, An... ORPHA:3312
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... OMIM:276950
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Diencephalic Syndrome
Long penis, Hydrocephalus, Large hands ORPHA:1672
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Narrow mouth, Limited elbow extension, Irregular epiphyses of the metacar... OMIM:614078
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodacty... OMIM:614815
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Micromelia, Preaxial polydactyly, Retinal coloboma, Occipital me... OMIM:616546
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment, Femoral bowing, Hip dysplasia, Finger joint hypermobility OMIM:166200
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus ORPHA:26
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,... OMIM:615994
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A... ORPHA:1215
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling, Inguinal hernia... OMIM:184250
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Carpenter Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg... OMIM:201000
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Microphallus, Bifid scrotum, Ectrodactyly, Abnormal scrotum morphology, Cryptor... ORPHA:397590
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac... OMIM:619142
Classic Galactosemia
Ataxia, Gait imbalance, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased... ORPHA:79239
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Temple Syndrome
Precocious puberty, Small hand, Clinodactyly, Decreased testicular size, Cryptorchidism, Hydrocep... OMIM:616222
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Gait disturbance, Abnormality of pain sensation, Ataxia, Hypospadias ORPHA:544254
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus,... ORPHA:2075
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Hypospadias, Cryptorchidism, Polydactyly OMIM:616910
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Kondoh Syndrome
Interphalangeal joint contracture of finger, Preaxial hand polydactyly OMIM:606242
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Thyroid carcinoma, Penile freckling, Foot polydactyly, Hurthle cell th... ORPHA:210548
Bardet-Biedl Syndrome 3
Postaxial polydactyly, External genital hypoplasia, Brachydactyly OMIM:600151
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate OMIM:246560
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Pallister-Hall-Like Syndrome
Hip dislocation, Toe syndactyly, Occipital encephalocele, Postaxial foot polydactyly, Micromelia,... OMIM:241800
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Microphthalmia, Syndromic 8
Cleft upper lip, Split foot, Orofacial cleft, Widely-spaced maxillary central incisors, Cleft palate OMIM:601349
9Q21.13 Microdeletion Syndrome
Difficulty walking, Cryptorchidism, Polydactyly, Vertebral segmentation defect, Hip dysplasia, Sc... ORPHA:531151
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchidism, Fibular hypopl... OMIM:616300
Osteogenesis Imperfecta, Type Iv
Femoral bowing present at birth, straightening with time, Otosclerosis, Hearing impairment OMIM:166220
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle... ORPHA:91348
Mucopolysaccharidosis Type 2
Optic atrophy, Otosclerosis, Conductive hearing impairment, Umbilical hernia, Decreased nerve con... ORPHA:580
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Cryptorchidism, Short long bone OMIM:615633
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Bardet-Biedl Syndrome 6
External genital hypoplasia, Postaxial polydactyly, Syndactyly, Vaginal atresia, Hypospadias, Dia... OMIM:605231
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,... OMIM:206920
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... ORPHA:1988
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, ... OMIM:617523
Nephronophthisis 15
Polydactyly, Retinal degeneration OMIM:614845
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Acalvaria
Omphalocele, Cleft palate, Postaxial hand polydactyly ORPHA:945
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Polydactyly OMIM:614465
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Abnormal posturing ORPHA:216866
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Inguinal her... OMIM:618950
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle... ORPHA:2010
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Talipes equinovarus, Hy... ORPHA:251066
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Clinodactyly, Tibial torsion, Decreased response... OMIM:602782
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Bilateral talipes equinovarus, Hydrocephalus, Inability to walk, Ataxia OMIM:618174
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Sandal gap, Supernumerary nipple, Camptodactyly of finger, Cryptorchidism, Single transverse palm... OMIM:619951
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Short neck, Ambiguous g... OMIM:613885
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han... OMIM:277170
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Brachydactyly, Abnormal intervertebral disk morphology, Abnormalit... ORPHA:2701
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly ORPHA:251046
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Retinitis Pigmentosa 51
Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio... OMIM:613464
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cryptorchidism OMIM:614857
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp... OMIM:174300
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly... OMIM:611561
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal,... OMIM:169400
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Dysmetria, Ataxia OMIM:203450
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Umbilical he... ORPHA:217085
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul... ORPHA:95699
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydrometrocolpos, Hypogonadism, Polydactyly, Postaxial hand polydacty... OMIM:615989
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Abnormal posturing OMIM:304700
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hydrocephalus, Hip disloca... OMIM:109120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Cryptorchidism, Bowing of the long bones, Radioulnar synostosis, Hydrocephalus, M... ORPHA:171839
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Umbilical he... ORPHA:217093
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
3P25.3 Microdeletion Syndrome
High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Thi... ORPHA:435638
Stromme Syndrome
Low-set ears, Retinal vascular tortuosity, Preaxial polydactyly, Hydrocephalus, Stillbirth, Optic... OMIM:243605
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Spinal canal stenosis, Hypogonadism, Long hallux, Cone-shaped epiphyses o... OMIM:101800
Senior-Loken Syndrome 9
Hypogonadism, Polydactyly, Hypoplasia of the femoral head OMIM:616629
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... ORPHA:1540
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Small hand, Hypogonadism, Cryptorchidism, Gait disturb... ORPHA:500055
Culler-Jones Syndrome