Gene Summary

Name:
tetratricopeptide repeat domain 26
Synonyms:
hpy,  hydrocephalic-polydactyl,  9430097H08Rik,  hop

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ttc26em1(IMPC)J HOM   Early adult 0.00

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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.

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Ttc26 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttc26 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism OMIM:615988
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Biemond Syndrome Type 2
Preaxial polydactyly, Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Bardet-Biedl Syndrome 22
Polydactyly, Hypogonadism OMIM:617119
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Micropenis OMIM:615983
Bardet-Biedl Syndrome 12
Polydactyly, Hypogonadism OMIM:615989
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Attention deficit... ORPHA:3000
Young Syndrome
Azoospermia OMIM:279000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Bardet-Biedl Syndrome 7
Polydactyly, External genital hypoplasia OMIM:615984
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea, Gait disturbance, Narrow palm, Clinodactyly, Syndactyly, Sm... ORPHA:1445
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... ORPHA:481
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Torticollis, Azoospermia OMIM:613724
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Hemochromatosis, Type 2A
Infertility, Lethargy, Azoospermia, Amenorrhea, Hypogonadotropic hypogonadism OMIM:602390
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of... ORPHA:2183
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Syndactyly, Hypospadias, Diabetes mellitus OMIM:605231
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Bardet-Biedl Syndrome 10
Polydactyly, Hypogonadism OMIM:615987
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615938
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Truncal ataxia, Abnormal sperm head morphology, Difficulty w... ORPHA:320391
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, ... ORPHA:294975
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Male hypogonadism, Azoospermia, Radiou... ORPHA:99330
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size, Preaxial hand polydactyly, Large hands ORPHA:85287
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Maternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Ambiguous genitalia, Rocker bottom foot, Azoospermia, Camptodactyly of finger, Go... ORPHA:261519
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Masa Syndrome
Hyperlordosis, Ventriculomegaly, Kyphosis, Talipes equinovarus, Adducted thumb, Hydrocephalus, Sh... OMIM:303350
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly OMIM:615982
Bardet-Biedl Syndrome 19
Polydactyly, Hypogonadism, External genital hypoplasia OMIM:615996
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Ataxia, Hydrocephalus, Attention deficit hyperac... OMIM:618709
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Short phalanx of finger, Hypergonadotropic hypogonadism, Abnormal hand morphology, S... OMIM:300845
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615937
48,Xyyy Syndrome
Dislocated radial head, Male hypogonadism, Azoospermia, Radioulnar synostosis, Primary gonadal in... ORPHA:99329
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Achondroplasia
Limited elbow extension, Trident hand, Rhizomelia, Lumbar kyphosis in infancy, Lumbar hyperlordos... OMIM:100800
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, C... ORPHA:432
48,Xxyy Syndrome
Hip dysplasia, Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Elbow dislocation... ORPHA:10
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly, Diabetes mellitus OMIM:601759
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Polydactyly, Kyphosis, 2-3 toe syndactyly, ... OMIM:300960
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601382
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Scoliosis, Postaxial polydactyly, Adducted thumb, Short distal... OMIM:618167
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Ambiguous genitalia, Preaxial polydactyly, Postaxial polydactyly, Bilateral ... OMIM:618142
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cryptorchidism, Talipes equinovarus, Hypospadias, Hip dislocation, Hydrocephalus, ... ORPHA:250994
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Carpenter Syndrome
Cryptorchidism, Genu valgum, Postaxial hand polydactyly, Broad thumb, Abnormal reproductive syste... ORPHA:65759
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Gait disturbance, Normal pressure hydrocephalus OMIM:611808
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Multiple Synostoses Syndrome 4
Otosclerosis, Brachydactyly, Tarsal synostosis, Overlapping toe OMIM:617898
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Sex reversal, Polydactyly,... OMIM:612651
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Acromelic Frontonasal Dysostosis
Cryptorchidism, Polydactyly, Preaxial polydactyly, Hypopituitarism, Syndactyly, Talipes equinovarus OMIM:603671
Joubert Syndrome 15
Polydactyly, Ambiguous genitalia, Micropenis, Ataxia OMIM:614464
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polyda... OMIM:175700
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ring Chromosome 22 Syndrome
Gait ataxia, Azoospermia, 2-3 toe syndactyly, Large hands, Impaired pain sensation ORPHA:1446
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
48,Xxxy Syndrome
Cryptorchidism, Infertility, Talipes equinovarus, Azoospermia, Radioulnar synostosis, Elbow dislo... ORPHA:96263
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Bardet-Biedl Syndrome 8
Polydactyly, Hypospadias, Hypogonadism OMIM:615985
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Polydactyly, External genital hypoplasia, Hypogonadism, Brachydactyly OMIM:615994
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Talipes equinovarus, Azoospermia, Radioulnar synostosis, Elbow dislo... ORPHA:96264
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Gait disturbance, Kyphosis, Shoulder dislocation, Adducted thumb, Hydrocephalus, Arach... ORPHA:2181
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Preaxial polydactyly, Postaxial polydactyly, Pancreatic fibrosis, Short long... OMIM:615503
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Narrow iliac wing, Narr... OMIM:609162
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Talipes equinovarus, Absent tibia, Micropenis, Preaxial polydactyly, Cone-sh... OMIM:613091
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly ORPHA:2921
Fried Syndrome
Scoliosis, Gait disturbance, Hydrocephalus ORPHA:85335
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Sandal gap, Absent radius, Sensorineural hearing impairment, Short thumb, ... OMIM:607323
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Triphalangeal thumb, Aplasia of the o... ORPHA:2232
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe... ORPHA:2378
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Temple Syndrome
Scoliosis, Cryptorchidism, Clinodactyly, Small hand, Short foot, Decreased testicular size, Hydro... OMIM:616222
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Ventriculomegaly, Short middle pha... OMIM:617926
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Gorlin Syndrome
Scoliosis, Cryptorchidism, Palmar pits, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogon... ORPHA:377
Trisomy 4P
Cryptorchidism, Radial club hand, Preaxial hand polydactyly, Camptodactyly of finger, Hypospadias ORPHA:1738
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Temple Syndrome
Scoliosis, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5th finger,... ORPHA:254516
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Polydactyly, Hypothyroid... ORPHA:397590
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Hand polydactyly, Syndactyly, Type I... OMIM:210900
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd fing... ORPHA:93320
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Cryptorchidism, Ventriculomegaly, Hypoplastic female external genitalia, Ulnar deviati... OMIM:618577
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Finger clinodactyly, Mesoaxial polydactyly, Gait d... ORPHA:2754
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Conductive hearing impair... OMIM:277170
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Myelomeningocele, Elbow dislocation, Fl... ORPHA:90652
Dandy-Walker Syndrome
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus OMIM:220200
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea, Decreased ser... ORPHA:79239
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Irregular menstruation, Polydactyly, Postaxial polydactyly, Syndactyl... OMIM:615986
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Hearing impairment, Abnormal auditory evoked potentials, Decreased ner... OMIM:601455
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Bradykinesia, Dysmetria, Abnormal shou... ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis OMIM:300886
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Lethargy, Abnormal posturing OMIM:614857
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly, Toe syndactyly OMIM:601163
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Dislocated radial head, Camptodactyly of finger, Mesomelic/rhi... ORPHA:2839
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadi... ORPHA:1772
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Anterior rounding of vertebral bodi... OMIM:260660
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Pettigrew Syndrome
Scoliosis, Gait ataxia, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Preaxial polydactyly, Postaxial polydactyly, Abnormality of the pinna, Anenceph... OMIM:616546
Bresek Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Neonatal death, Decreased t... ORPHA:85284
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multinodular goiter ORPHA:2091
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Multinodul... OMIM:138790
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Au-Kline Syndrome
Hip dysplasia, Cryptorchidism, Deep palmar crease, Scoliosis, Overlapping toe, Postaxial polydact... OMIM:616580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Hand muscle weakness, Paresis of extensor muscles of the big toe, Triceps weakness, In... ORPHA:99947
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Hyperactivity OMIM:615824
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Cryptorchidism, Hypoplastic ischia, Hypospadias OMIM:616910
Diencephalic Syndrome
Large hands, Hydrocephalus, Long penis ORPHA:1672
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
3Mc Syndrome 3
Cryptorchidism, Radioulnar synostosis, Bifid scrotum, Preaxial polydactyly, Penoscrotal hypospadi... OMIM:248340
Thalidomide Embryopathy
Anotia, Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Abnormali... ORPHA:3312
Autosomal Dominant Cerebellar Ataxia
Dystonia, Azoospermia, Impaired vibratory sensation, Akinesia, Chorea, Gait disturbance, Progress... ORPHA:99
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Chromosome 17P13.1 Deletion Syndrome
Short neck, Long hallux, Short foot, Proximal placement of thumb, Broad hallux, Elbow flexion con... OMIM:613776
Genitopalatocardiac Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Gonadal dysgenesis, male, Male p... ORPHA:2075
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry, Abnormal external genitalia ORPHA:231140
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Tibial Hemimelia
Cryptorchidism, Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Meta... ORPHA:93322
Meier-Gorlin Syndrome 7
Cryptorchidism, Preaxial polydactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowi... OMIM:617063
Mental Retardation, Autosomal Dominant 23
Scoliosis, Broad distal phalanx of finger, Hyperlordosis, Kyphosis, Postaxial polydactyly, Sacral... OMIM:615761
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
20P13 Microdeletion Syndrome
Wide anterior fontanel, Bilateral external ear deformity, Finger syndactyly, Polydactyly, Hypopla... ORPHA:313781
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Generalized dystonia, Atten... ORPHA:216866
Achondroplasia
Thoracolumbar kyphosis, Limited elbow extension, Short proximal phalanx of finger, Cervical spina... ORPHA:15
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebral morphology,... OMIM:276950
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligospermia OMIM:314300
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Increased circulating gonadotropin level, Panhyp... ORPHA:91348
Aarskog-Scott Syndrome
Cryptorchidism, Short 5th finger, Elevated circulating luteinizing hormone level, Broad palm, Sho... OMIM:305400
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Talipes equinova... ORPHA:251066
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Bowing of the long bones... OMIM:187600
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Femoral bowing present at birth, straightening with time OMIM:166220
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Postaxial polydactyly, Ataxia, Abnormality of pain sensation, Hypospadias ORPHA:544254
Femoral-Facial Syndrome
Hip dysplasia, Cryptorchidism, Short femur, Maternal diabetes, Long penis, Radioulnar synostosis,... ORPHA:1988
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Mucopolysaccharidosis Type 2
Hip dysplasia, Otosclerosis, Abnormality of retinal pigmentation, Conductive hearing impairment, ... ORPHA:580
Acalvaria
Holoprosencephaly, Spina bifida, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Metatarsus adductus, Sensorineural hearing impairment, Spina bi... OMIM:201000
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis, Brachydactyly, Hydrocephalus, Sandal gap OMIM:600991
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Scoliosis, Difficulty walking, Polydactyly, Vertebral segmentation... ORPHA:531151
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxia... OMIM:616300
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Camptodactyly of finger, Azoospermia, Flexion contracture of finger, Hypergon... OMIM:602782
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metatarsal, Oligospermia, Hypoplastic pelvis, Breast hypoplasia, Cone-shaped epiphysis, Sho... OMIM:614813
Joubert Syndrome 10
Low-set ears, Rod-cone dystrophy, Postaxial polydactyly OMIM:300804
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Abnormality of the elbow, Abnormality of the intervertebral disk, Brachydactyly, ... ORPHA:2701
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Meckel Syndrome, Type 10
Postaxial polydactyly, Sacral dimple, Anencephaly, Hypospadias, Micropenis OMIM:614175
Acrocraniofacial Dysostosis
Conductive hearing impairment, Short 1st metacarpal, Abnormality of the outer ear, Metatarsus add... OMIM:201050
Senior-Loken Syndrome 9
Polydactyly, Hypogonadism, Hypoplasia of the femoral head OMIM:616629
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Anterior hypopituitarism, Hip dislocation, Micropenis, Hydrocephalus,... OMIM:241800
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment, Femoral bowing OMIM:166200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Irregular epiphyses, Retinal degeneration,... OMIM:619260
6P22 Microdeletion Syndrome
Clinodactyly, Short neck, Hydrocephalus, Finger syndactyly ORPHA:251046
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Platyspondyly, Ve... ORPHA:2655
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Eleva... OMIM:101800
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Preaxial hand polydactyly OMIM:606242
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hip disloca... OMIM:109120
16P13.2 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Scoliosis, Ventriculomegaly, Gait disturbance, Kyphosis, Small han... ORPHA:500055
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaph... OMIM:300863
Nephronophthisis 15
Polydactyly, Retinal degeneration OMIM:614845
Joubert Syndrome 18
Polydactyly, Camptodactyly, Kyphoscoliosis OMIM:614815
Mental Retardation, Buenos Aires Type
Cuboid-shaped thoracolumbar vertebral bodies, Spastic gait, Hypospadias, Clinodactyly of the 5th ... OMIM:249630
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly, External genital hypoplasia OMIM:600151
Craniofacial Dyssynostosis
Clinodactyly of the 5th finger, Short neck, Hydrocephalus, Sacral dimple ORPHA:1516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Toe syndactyly, Radioulnar synostosis, Bowing of the long bones, Hypospadias, Mic... ORPHA:171839
H Syndrome
Azoospermia, Amenorrhea, Camptodactyly, Delayed puberty, Decreased testicular size, Hypogonadism,... ORPHA:168569
Mohr Syndrome
Scoliosis, Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxi... OMIM:252100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Tarsal synostosis, Camptodactyly, Increased size of the clitoris, Elbo... ORPHA:95699
Mucopolysaccharidosis Type 2, Severe Form
Hip dysplasia, Camptodactyly of finger, Otosclerosis, Abnormality of retinal pigmentation, Conduc... ORPHA:217085
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Mucopolysaccharidosis Type 2, Attenuated Form
Hip dysplasia, Camptodactyly of finger, Otosclerosis, Abnormality of retinal pigmentation, Conduc... ORPHA:217093
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, Ab... ORPHA:52368
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Hypoplastic ni... ORPHA:2437
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Pre... ORPHA:1540
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventriculomegaly, Syndactyly, Hydrocephalus OMIM:602501
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of finger, Camptodactyly, Flexion contracture of toe, Add... OMIM:193700
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly, Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker... OMIM:220220
Radial Aplasia, X-Linked
Penile hypospadias, Absent radius, Hydrocephalus OMIM:312190
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
L1 Syndrome
Gait disturbance, Adducted thumb, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Rhizomelic Syndrome, Urbach Type
Preaxial hand polydactyly, Wide anterior fontanel, Abnormality of epiphysis morphology, Rhizomeli... ORPHA:3098
Otosclerosis 10
Otosclerosis OMIM:615589
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Abnormal internal genitalia, Talipes e... OMIM:612284
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Clubbing of fingers, Anisospondyly, Broad long bones, Hypoplastic ilia, Hypoplast... ORPHA:1865
Rhombencephalosynapsis
Abnormality of the uterus, Short phalanx of finger, Finger syndactyly, Polydactyly, Ventriculomeg... ORPHA:59315
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Upper limb undergrowth, Broad thumb, Recurrent otitis media, Hemihy... ORPHA:529962
Wolfram Syndrome 1
Hypothyroidism, Ataxia, Testicular atrophy, Diabetes insipidus, Limited mobility of proximal inte... OMIM:222300
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Hypergonadotropic hypogonadism, Primary amenorrhea, Bradykinesia, Testicular atrophy... OMIM:157640
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hemivertebrae, Sandal gap, Brachydactyly, Hydro... ORPHA:2180
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Large earlobe, Absent tragus, Overfolded... ORPHA:79113
Orofaciodigital Syndrome Xv
Ventriculomegaly, Broad hallux, Postaxial polydactyly OMIM:617127
Thanatophoric Dysplasia Type 2
Platyspondyly, Holoprosencephaly, Ventriculomegaly, Kyphosis, Abnormality of the metaphysis, Brac... ORPHA:93274
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Lethargy, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decr... ORPHA:465508
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly, Bile duct proliferation, Hyd... OMIM:607361
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse pa... ORPHA:1106
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Septate ... OMIM:617925
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Low-set ears, Optic nerve hypoplasia, Hydrocephalus, Retinal va... OMIM:243605
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Joubert Syndrome 20
Abnormal retinal morphology, Syndactyly, Retinopathy, Postaxial polydactyly OMIM:614970
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Split hand, Ventriculomegaly, S... ORPHA:1860
Culler-Jones Syndrome
Cryptorchidism, Postaxial polydactyly, Ectopic posterior pituitary, Anterior pituitary hypoplasia... OMIM:615849
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Postaxial hand polydactyly, Short neck OMIM:613885
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precociou... ORPHA:759
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hypo... ORPHA:163966
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split ... OMIM:609945
Maternal Uniparental Disomy Of Chromosome 2
Preaxial hand polydactyly, Chordee, Hypothyroidism, Bilateral cryptorchidism, Hypospadias, Sponta... ORPHA:96179
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Bicornuate uterus, Absent radius, Triphalangeal thumb, Hallux valgus, Hydrocephalus, L... OMIM:154400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Triploidy
Cryptorchidism, Ambiguous genitalia, Finger syndactyly, Holoprosencephaly, Meningocele, Hypoplasi... ORPHA:3376
Aromatase Deficiency
Cryptorchidism, Genu valgum, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertili... ORPHA:91
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Scoliosis, Unsteady gait, Hydrocephalus OMIM:617542
Fanconi Anemia
Cryptorchidism, Bicornuate uterus, Triphalangeal thumb, Abnormal preputium morphology, Abnormalit... ORPHA:84
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormality of... ORPHA:763
Mental Retardation, Autosomal Dominant 36
Inability to walk, Deviation of the 5th finger, Ventriculomegaly, Broad hallux, Hydrocephalus OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metacarpal bones, Brachydactyly, Hydroc... ORPHA:93262
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Acrocallosal Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Toe syndactyly, Wide anterior fontanel, Fi... OMIM:200990
3C Syndrome
Scoliosis, Hand polydactyly, Finger syndactyly, Ventriculomegaly, Kyphosis, Hemivertebrae, Abnorm... ORPHA:7
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Cutaneous syndactyly, Overlapping toe, Ventriculomegaly, Scrotal hypoplasia,... OMIM:617822
Mirage Syndrome
Overlapping fingers, Cryptorchidism, Radial club hand, Rocker bottom foot, Microphallus, Talipes ... OMIM:617053
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Anterior beaking of lumbar vertebr... OMIM:253220
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Bilateral single transverse p... ORPHA:1120
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Ventriculomegaly, Kyphosis, Ataxia, Metaphyseal widening, Hydrocephalus OMIM:618476
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Metaphyseal irregularity, Flared iliac wing, Sp... OMIM:253200
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Mullegama-Klein-Martinez Syndrome
Scoliosis, Polydactyly, Unsteady gait, Clinodactyly of the 5th finger, Attention deficit hyperact... OMIM:301022
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Ventriculomegaly... ORPHA:1647
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductive hearing impairment,... ORPHA:2549
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Short neck, Punctate vertebral calcifications, Short distal phalanx of fing... ORPHA:1914
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Hydrocephalus, Short lower limbs OMIM:236640
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Optic disc hypoplasia, Broad hallux phalanx, Sandal gap, S... ORPHA:959
Johnson Neuroectodermal Syndrome
Hypogonadism, Preaxial hand polydactyly, Hand polydactyly ORPHA:2316
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Camptodactyly of finger, Gait disturbance, Hydrocephalus ORPHA:272
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyl... OMIM:617895
Joubert Syndrome
Scoliosis, Hand polydactyly, Abnormal form of the vertebral bodies, Gait disturbance, Ataxia, Foo... ORPHA:475
Lambotte Syndrome
Semilobar holoprosencephaly, Atresia of the external auditory canal, Preaxial foot polydactyly, M... OMIM:245552
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Dystonia, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Septate vagina, Syndactyly, Short toe, ... OMIM:114150
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Preaxial hand polydactyly, Urethral obstruction OMIM:601389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Decreased testicular size, Micropenis, Hydrocephalus, Dandy-Walker... OMIM:615287
Carpenter Syndrome 2
Cryptorchidism, Talipes equinovarus, Broad thumb, Supernumerary nipple, Camptodactyly, Preaxial p... OMIM:614976
Cutis Laxa, Autosomal Recessive, Type Iib
Scoliosis, Congenital hip dislocation, Bowing of the long bones, Hydrocephalus OMIM:612940
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Slender toe, Arachnodactyly, Hydrocephalus OMIM:310400
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Bowed forearm bones, Forearm undergrowth, Absent radius, Absent thumb, Hydrocep... OMIM:602200
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Hypergonadotropic hypogonadism, Ventriculomegaly, Bilateral radial... OMIM:300514
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Holoprosencephaly, Hemivertebrae, Hypoplasia of pe... ORPHA:77298
Ritscher-Schinzel Syndrome 1
Hemivertebrae, Syndactyly, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Decreased respo... OMIM:220210
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Spinal dysraphism, Vertebral se... ORPHA:1926
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Low-set ears, Mirror image foot polydactyly,... OMIM:119800
Joubert Syndrome 7
Scoliosis, Postaxial hand polydactyly, Postaxial polydactyly, Ataxia OMIM:611560
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Sex reversal, Hypoplastic sca... OMIM:114290
Central Neurocytoma
Abnormal lateral ventricle morphology, Lethargy, Hydrocephalus, Ataxia ORPHA:73256
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus OMIM:619302
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, Mesomelia, Sh... OMIM:614091
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Arrhinencephaly, Anencephaly, Abnormal fallopian tube... ORPHA:2189
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly, Scoliosis OMIM:613819
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Bile... OMIM:603194
Retinitis Pigmentosa 89
Rod-cone dystrophy, Hyperautofluorescent retinal lesion, Postaxial polydactyly, Retinal thinning OMIM:618955
3P25.3 Microdeletion Syndrome
Scoliosis, 2-3 finger syndactyly, Broad thumb, Overlapping toe, Postaxial polydactyly, Ataxia, Ac... ORPHA:435638
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Preaxial hand polydactyly, Camptodactyly of finger, Toe synd... ORPHA:261344
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hydrocephalus ORPHA:83473
Congenital Sialidosis Type 2
Polydactyly, Yellow/white lesions of the retina, Umbilical hernia, Low-set ears, Hearing impairme... ORPHA:93400
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Ventriculomegaly, Short long bone, Cone-shaped epiphyses... OMIM:615630
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Ventriculomegaly, Gait disturbance, Hydrocephalus, Attention deficit hyperactivit... OMIM:609757
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Adducted thumb, Hydrocephalus, Aqueductal stenosis OMIM:307000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Short neck, Camptodactyly, Broad long bones, Bowing of the long bones, Short long bone, Narrow gr... OMIM:224400
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Punctate vertebral calcifications, Polydactyly, Hemiatrophy, Pos... OMIM:302960
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Spina bifida, Scoliosis, Polydactyly,... OMIM:109400
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus, Thoracic scoliosis, Kyphosis OMIM:603387
Suleiman-El-Hattab Syndrome
Overfolded helix, Polydactyly, Single transverse palmar crease, Low-set ears, Clinodactyly, Heari... OMIM:618950
1Q21.1 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Hand polydactyly, Toe syndactyly, Broad hallux phalanx, F... ORPHA:250989
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Septooptic Dysplasia
Polydactyly, Optic disc hypoplasia, Short finger, Optic nerve hypoplasia OMIM:182230
Joubert Syndrome With Ocular Defect
Scoliosis, Hand polydactyly, Abnormal vertebral morphology, Gait disturbance, Ataxia, Foot polyda... ORPHA:220493
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Hyd... ORPHA:3016
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Chromosome 3Pter-P25 Deletion Syndrome
Cryptorchidism, Tapered finger, Postaxial polydactyly, Sacral dimple OMIM:613792
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Short neck, Brachydactyly, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventriculomegaly, Hydrocephalus, Hypospadias OMIM:218350
Opitz-Kaveggia Syndrome
Cryptorchidism, Broad thumb, Short neck, Split hand, Camptodactyly, Sacral dimple, Radial deviati... OMIM:305450
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Abnormality of the pinna, Low-set ears, Lower limb underg... OMIM:101120
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Adducted thumb, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Joubert Syndrome 16
Polydactyly, Retinal dystrophy OMIM:614465
Emanuel Syndrome
Scoliosis, Infertility, Cryptorchidism, Congenital hip dislocation, Ventriculomegaly, Sacral dimp... ORPHA:96170
Edinburgh Malformation Syndrome
Long fingers, Slender finger, Hydrocephalus, Ulnar deviation of finger ORPHA:1895
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Tarp Syndrome
Prominent antihelix, Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polyd... OMIM:311900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral bodies, Gait ... ORPHA:3042
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormality of finger, Finger syndactyly, Abnormal penis morphology, K... ORPHA:2658
Fg Syndrome Type 1
Cryptorchidism, Abnormal thumb morphology, Broad toe, Finger syndactyly, Ventriculomegaly, Small ... ORPHA:93932
Duane Retraction Syndrome
Chorioretinal coloboma, Hypoplasia of the radius, Preaxial hand polydactyly, Narrow internal audi... ORPHA:233
Curry-Jones Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, F... ORPHA:1553
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Hand muscle atrophy, Proxi... ORPHA:101085
Mend Syndrome
Overlapping fingers, Cryptorchidism, Hand polydactyly, Overlapping toe, Kyphosis, 2-3 toe syndact... ORPHA:401973
Pseudotrisomy 13 Syndrome
Cryptorchidism, Postaxial hand polydactyly, Holoprosencephaly, 2-3 toe syndactyly, Hemivertebrae,... OMIM:264480
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Fused labia minora, Camptodactyly, Hypoplastic labia... OMIM:207410
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Scoliosis, Hydrocephalus, Ventriculomegaly, Postaxial polydactyly, Broad hallux, H... ORPHA:457284
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Hand polydactyly, Finger syndactyly, Ventriculomegaly, Foot polydactyly, Hydrocep... ORPHA:60040
Woodhouse-Sakati Syndrome
Dystonia, Choreoathetosis, Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallop... ORPHA:3464
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Ventriculomegaly, Gait disturbance, Sandal gap, Hypoplasia of penis, Abnormality ... ORPHA:1812
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Cryptorchidism, Broad distal phalanx of finger, Kyphosis, 2-3 toe syndactyly, Postaxia... ORPHA:404440
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93259
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal morphology of female internal genitalia, Abnormal form of the vertebral bodie... ORPHA:1834
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Shortening of all distal phalanges of the fingers, Truncal ataxia, Dilated fourth ventricle, Hydr... OMIM:220219