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Gene: Ufsp2 MGI:1913679

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Gene Summary

Name:
UFM1-specific peptidase 2
Synonyms:
1810047C23Rik

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
anophthalmia Ufsp2em1(IMPC)Mbp HET E15.5 0.00
embryonic lethality prior to organogenesis Ufsp2em1(IMPC)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Ufsp2em1(IMPC)Mbp HOM   Early adult 0.00
syndactyly Ufsp2em1(IMPC)Mbp HET E15.5 0.00
hemorrhage Ufsp2em1(IMPC)Mbp HET E15.5 0.00
spina bifida Ufsp2em1(IMPC)Mbp HET E15.5 0.00
microcephaly Ufsp2em1(IMPC)Mbp HET E15.5 0.00
prenatal lethality prior to heart atrial septation Ufsp2em1(IMPC)Mbp HOM   E15.5 0.00
abnormal uterus morphology Ufsp2em1(IMPC)Mbp HET Early adult 0.00
hydrometra Ufsp2em1(IMPC)Mbp HET Early adult 0.00
polydactyly Ufsp2em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Ufsp2em1(IMPC)Mbp HET E15.5 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Ufsp2 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 Ufsp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 106
Microcephaly, Cerebellar hypoplasia OMIM:620028
Beukes Hip Dysplasia
Broad femoral neck, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Flat capi... OMIM:142669
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... OMIM:617974
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormality of the epiphysis of the femoral head, Coxa vara, Hip dysplasia, A... ORPHA:2114

The table below shows human diseases predicted to be associated to Ufsp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly OMIM:233270
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... OMIM:615938
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... ORPHA:64754
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... OMIM:613885
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... OMIM:616570
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... OMIM:600384
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... OMIM:164180
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... ORPHA:945
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... OMIM:211960
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... OMIM:615771
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... ORPHA:139471
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... OMIM:610140
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly OMIM:251220
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... ORPHA:380
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia, Abnormal thumb morphology OMIM:614082
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... ORPHA:1528
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... OMIM:603194
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
15Q11Q13 Microduplication Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... OMIM:611134
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... OMIM:218670
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... OMIM:615665
Meckel Syndrome, Type 5
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... OMIM:611561
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microphthalmia, Microcephaly ORPHA:291
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius ORPHA:2476
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Anophthalmia Plus Syndrome
Spina bifida, Deviation of finger, Anophthalmia ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... OMIM:602501
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... ORPHA:2839
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... ORPHA:166024
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Seckel Syndrome 2
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia OMIM:606744
Hydrolethalus
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... ORPHA:2189
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... OMIM:182230
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Lissencephaly 8
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... OMIM:613155
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... ORPHA:1327
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia OMIM:614830
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Czeizel-Losonci Syndrome
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... ORPHA:2437
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Bardet-Biedl Syndrome 22
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly OMIM:617119
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... OMIM:225280
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia, Microcephaly ORPHA:3469
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... ORPHA:1553
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... ORPHA:2117
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth ORPHA:324416
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... OMIM:136760
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... ORPHA:1120
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... ORPHA:65759
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Microphthalmia, Syndromic 8
Split foot, Microphthalmia, Microcephaly OMIM:601349
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly OMIM:274270
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia, Microcephaly OMIM:619981
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... ORPHA:899
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... ORPHA:1466
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Microcephaly ORPHA:63862
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Trisomy 1Q
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... ORPHA:261344
Adams-Oliver Syndrome 3
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... OMIM:614814
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Hypomelanosis Of Ito
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... OMIM:300337
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... ORPHA:1908
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... OMIM:618447
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Nanophthalmos 4
Microphthalmia OMIM:615972
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... OMIM:169550
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger OMIM:618725
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... OMIM:300863
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia ORPHA:411986
Fountain Syndrome
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... ORPHA:3219
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... OMIM:600118
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... OMIM:619091
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Solitary Median Maxillary Central Incisor
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly OMIM:147250
Curry-Jones Syndrome
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... OMIM:601707
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... OMIM:600325
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia ORPHA:261272
Orofaciodigital Syndrome Xviii
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... OMIM:251270
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand DECIPHER:46
Neu-Laxova Syndrome 2
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... OMIM:616038
Summitt Syndrome
Syndactyly OMIM:272350
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... OMIM:607361
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... OMIM:207950
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum ORPHA:63260
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... OMIM:615181
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... ORPHA:3378
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... OMIM:603387
Periventricular Nodular Heterotopia 1
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... OMIM:300049
Joubert Syndrome 16
Polydactyly, Encephalocele, Dandy-Walker malformation OMIM:614465
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Pierpont Syndrome
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... ORPHA:487825
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... OMIM:613153
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Summitt Syndrome
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... ORPHA:3210
Moebius Syndrome
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... OMIM:157900
Developmental Delay With Variable Neurologic And Brain Abnormalities
Thin corpus callosum, Camptodactyly, Down-sloping shoulders, Microphthalmia, Microcephaly, Cubitu... OMIM:619694
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... ORPHA:163966
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... ORPHA:2538
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... ORPHA:754
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Nail-Patella Syndrome
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... OMIM:161200
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... OMIM:618914
Nephronophthisis 15
Polydactyly, Cerebellar vermis hypoplasia OMIM:614845
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Pierpont Syndrome
Short toe, Short foot, Short finger, Microphthalmia, Microcephaly, Deep palmar crease, Short palm... OMIM:602342
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Hydrocephalus, Macrocephaly, Single transverse palmar crease, Absent dista... OMIM:614219
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Meckel Syndrome, Type 10
Cerebellar hypoplasia, Anencephaly, Camptodactyly, Dandy-Walker malformation, Postaxial foot poly... OMIM:614175
Joubert Syndrome 18
Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Occip... OMIM:614815
Camptobrachydactyly
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... ORPHA:1319
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Cerebellar hypopl... OMIM:610758
Grange Syndrome
Aortic regurgitation, Syndactyly, Short palm, Hypertension ORPHA:79094
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Syringomyelia, Phocomelia, Ta... OMIM:274000
Joubert Syndrome 10
Macrocephaly, Postaxial polydactyly, Cerebellar vermis hypoplasia OMIM:300804
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Toe sy... ORPHA:2092
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... ORPHA:93267
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Epiphyseal dysplasia, Flatt... OMIM:607131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus... OMIM:615249
Meckel Syndrome
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:564
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... OMIM:158330
Monosomy 5P
Finger syndactyly, Small hand, Microcephaly ORPHA:281
Vacterl With Hydrocephalus
Aqueductal stenosis, Anophthalmia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hydro... ORPHA:3412
Sclerosteosis
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Broad phalanx, Per... ORPHA:508498
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele ORPHA:1756
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Optic nerve ... OMIM:605627
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Finger syndactyly,... ORPHA:974
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Spina bifida, Hydrocephalus, Macrocephaly, Down-s... OMIM:109400
Brachydactyly, Type B1
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... OMIM:113000
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Biparietal narrowing, Hip dislocation, Dandy-Walker malfor... ORPHA:99776
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Intracranial hemorrhage, ... OMIM:614424
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ap... ORPHA:1926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Microcephaly, Hypoplastic ischia OMIM:616910
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... ORPHA:168563
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal shoulder morphology ORPHA:2345
Camptobrachydactyly
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... OMIM:615986
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... ORPHA:264200
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Bartsocas-Papas Syndrome 2
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly OMIM:619339
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... ORPHA:1393
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... OMIM:617914
Trisomy 18
Camptodactyly of finger, Abnormality of the upper limb, Aplasia/Hypoplasia of the corpus callosum... ORPHA:3380
Congenital Toxoplasmosis
Cerebral calcification, Hydrocephalus, Microphthalmia, Microcephaly ORPHA:858
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Foot polydactyly, Porencephalic cyst, Short finger, Hand polydactyly... OMIM:258860
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper ... ORPHA:88630
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Cerebral ischemia, Toe syndactyly, Foot ... ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Microcephaly OMIM:610756
Bresek Syndrome
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial hand polydactyly ORPHA:85284
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Aniridia, Mitral regurgitation,... ORPHA:1101
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... OMIM:617102
Cousin Syndrome
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... OMIM:260660
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly ORPHA:1406
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Dysplastic corpus callosum, ... OMIM:614833
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Temtamy Syndrome
Thick corpus callosum, Agenesis of corpus callosum, Hip dislocation, Aortic regurgitation, Short ... OMIM:218340
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Dan... ORPHA:63259
Ritscher-Schinzel Syndrome 2
Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Macrocephaly, Overlapping toe, Broad hallux, ... OMIM:300963
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Abnormally large globe, Short fo... ORPHA:363417
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Joint contracture of the hand, Cerebellar hypoplasia, Elbow flexion contracture, Agen... OMIM:214150
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Agenesis of corpus callosum, Lissencephaly, Overlapping toe, Preaxial polydactyly, Microcephaly, ... OMIM:618142
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Aplasia/Hypoplasia of the corpus callosum, Aqueductal stenosis, Humero... OMIM:251230
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Macrocephaly, Microcephaly, Brachydactyly ORPHA:313781
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Anopht... ORPHA:2162
Focal Dermal Hypoplasia
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... OMIM:305600
Amish Lethal Microcephaly
Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia ORPHA:99742
Joubert Syndrome 23
Polydactyly, Dysplastic corpus callosum OMIM:616490
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... ORPHA:2251
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Mosaic Trisomy 1
Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent... ORPHA:1692
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... ORPHA:1263
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Sandestig-Stefanova Syndrome
Primary microcephaly, Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse pa... OMIM:618804
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation, Syringomyelia ORPHA:404451
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... OMIM:300244
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia OMIM:613730
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Rhombencephalosynapsis
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... ORPHA:59315
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Microcephaly ORPHA:1445
3Q29 Microduplication Syndrome
Toe syndactyly, Camptodactyly of toe, Biparietal narrowing, Macrocephaly, Microphthalmia, Sandal ... ORPHA:251038
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, P... ORPHA:370959
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, H... ORPHA:1352
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia ORPHA:48431
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Neu-Laxova Syndrome 1
Finger syndactyly, Joint contracture of the hand, Primary microcephaly, Spina bifida, Short umbil... OMIM:256520
Orofaciodigital Syndrome Xvii
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... OMIM:617926
Craniofrontonasal Dysplasia
Camptodactyly of finger, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Dow... ORPHA:1520
Martsolf Syndrome 1
Short phalanx of finger, Short toe, Broad femoral neck, Cardiomyopathy, Avascular necrosis of the... OMIM:212720
Monosomy 18P
Hypertension, Holoprosencephaly, Microcephaly, Microphthalmia, Brachydactyly ORPHA:1598
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Joubert Syndrome 33
Syndactyly, Macrocephaly OMIM:617767
Limb Body Wall Complex
Duplication of hand bones, Encephalocele, Myelomeningocele, Forearm reduction defects, Cutaneous ... ORPHA:2369
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... ORPHA:392
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Warburg Micro Syndrome 2
Global brain atrophy, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Overlapping toe, ... OMIM:614225
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cranium bifidu... ORPHA:391474
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... OMIM:619135
Baraitser-Winter Syndrome 2
Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia, Cerebellar hypoplasia OMIM:618805
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Sirenomelia
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Joubert Syndrome 7
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Abnormal corpus callosum morphology, Pos... OMIM:611560
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Macroce... OMIM:614643
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Microphthalmia, Microcephaly ORPHA:290
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Microcephaly OMIM:615284
Meckel Syndrome 14
Postaxial foot polydactyly, Syndactyly, Holoprosencephaly, Mitral regurgitation, Microphthalmia, ... OMIM:619879
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... OMIM:142900
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Sh... ORPHA:2994
Mohr Syndrome
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... OMIM:252100
Gracile Bone Dysplasia
Slender long bone, Hydrocephalus, Flared metaphysis, Microphthalmia, Brachydactyly, Aniridia OMIM:602361
Intellectual Developmental Disorder, Autosomal Dominant 36
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Deviation of the 5th finger, Broad hal... OMIM:616362
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Corpus callosum atrophy, Diffuse cerebral atrophy, Microcephaly ORPHA:77299
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Secondary microcephaly, Microphthalmia, Tricuspid regurgitation OMIM:618652
3P25.3 Microdeletion Syndrome
Tapered finger, 2-3 finger syndactyly, Congenital pseudoarthrosis of the clavicle, Broad hallux, ... ORPHA:435638
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Clinodactyly of the 5th f... OMIM:236500
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Holoprosencephaly 9
Anophthalmia, Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephal... OMIM:610829
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Tapered finger, Pulmonic stenosis, Anencephaly, Agenesis of corpus callosum, Campt... OMIM:619148
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral ... OMIM:607597
Weaver Syndrome
Camptodactyly of finger, Finger syndactyly, Macrocephaly, Broad thumb, Sandal gap, Abnormal metap... ORPHA:3447
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Postaxial foot polydacty... OMIM:264480
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Microcephaly, Arachnodactyly OMIM:619092
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Thin corpus callosum, Broad hallux, Single transverse palmar crease, Microphthalmia, Microcephaly... OMIM:614105
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb, Abnormal thumb morphology ORPHA:1825
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Short foot, Finger syndactyly, Toe syndacty... ORPHA:93258
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly OMIM:617883
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... OMIM:609945
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Broad hallux, Syndactyly, Broad thumb, Microcephaly, Promi... OMIM:613684
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Slender long bone, Hypertension, A... OMIM:234100
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand OMIM:603543
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Broad thumb, Microceph... OMIM:619721
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... OMIM:605282
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Hand clenching, Anophthalmia, Talipes equinovarus, Radioulnar synostosis, Dan... OMIM:300166
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Duane-Radial Ray Syndrome
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of... OMIM:607323
Fanconi Anemia
Triphalangeal thumb, Abnormality of the upper limb, Finger syndactyly, Spina bifida, Aplasia/Hypo... ORPHA:84
Campomelic Dysplasia
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Hip dislocation, Metatarsus adductus, ... OMIM:114290
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... ORPHA:2788
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Microphthalmia, Microcephaly OMIM:308350
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... ORPHA:1788
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Arrhinencephaly, Central Y-... OMIM:277170
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Hand clenching, Global brain atrophy, Microphthalmia, Microcephaly, Cere... OMIM:616920
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... ORPHA:2756
Joubert Syndrome 17
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly OMIM:614615
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Foot polydactyly, Agenesis of corpus callosum, Hydrocephalus, Hand polydactyly, C... ORPHA:250989
Trisomy 20P
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Spina bifida, Brachydactyl... ORPHA:261318
Microphthalmia, Syndromic 6
Polydactyly, Contracture of thumb, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus ca... OMIM:607932
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Short foot, Finger syndactyly... ORPHA:251014
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Hemiatrophy of upper limb, Abnormal f... ORPHA:163649
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Spina bifida, Macrogyria, Cerebral calcificati... ORPHA:2671
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Genu valgum, Flexion contracture of the 2nd toe, Radioulnar synostosis, Flexi... ORPHA:2712
Joubert Syndrome 21
Hypoplasia of the corpus callosum, Occipital encephalocele, Hypoplasia of the brainstem, Anophtha... OMIM:615636
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615994
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Cerebellar vermis hypoplasia, Partial agenesis of the corp... OMIM:304050
Ring Chromosome 10 Syndrome
Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Cockayne Syndrome Type 2
Subcortical white matter calcifications, Anophthalmia ORPHA:90322
Filippi Syndrome
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous... OMIM:272440
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Macrocephaly, Sh... OMIM:169400
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Synostosis of carpal bones, Microphthalmia, Bilateral single transverse palmar creases ORPHA:3191
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Microphthalmia, Postaxial polydactyly, Cerebellar vermis hypop... OMIM:619185
Stevenson-Carey Syndrome
Joint contracture of the hand, Cerebellar hypoplasia, Hip dysplasia, Camptodactyly, Microphthalmi... OMIM:611961
Congenital Fibrinogen Deficiency
Microphthalmia, Tachycardia, Clubbing of fingers, Internal hemorrhage ORPHA:335
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Optic nerve hypoplasia, Absent sept... OMIM:609053
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... OMIM:217085
Ivic Syndrome
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... OMIM:147750
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly,... ORPHA:397590
Marden-Walker Syndrome
Hypoplasia of the brainstem, Joint contracture of the hand, Cerebellar hypoplasia, Inferior cereb... OMIM:248700
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Microphthalmia, Brachydactyly OMIM:614526
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... ORPHA:959
Jacobsen Syndrome
Short toe, Finger syndactyly, Spina bifida, Toe syndactyly, Long hallux, Macrocephaly, Hip disloc... ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short long bone, Macrocephaly, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs... OMIM:615503
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Cardiomyopathy, S... ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Hydrocephalus, Macrocephaly, Cerebellar vermis hypoplasia, Cerebral calcification, Buphth... OMIM:616538
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Broad dista... ORPHA:464738
Baraitser-Winter Syndrome 1
Lissencephaly, Duplication of phalanx of hallux, Microphthalmia, Microcephaly, Pachygyria, Aortic... OMIM:243310
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... OMIM:304120
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Macrocephaly, Microphthalmia OMIM:617306
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord, Sandal gap, Macrodactyly OMIM:612918
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Acrofrontofacionasal Dysostosis 2
Hand polydactyly, Broad hallux, Syndactyly, Broad thumb, Microcephaly OMIM:239710
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Encephalocele, Patellar hypoplasia, ... OMIM:603671
Oculopalatocerebral Syndrome
Microphthalmia, Microcephaly OMIM:257910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Mitral stenosis, Tethered cord, Microcephaly, Aortic valve stenosis OMIM:617660
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... OMIM:605432
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Triploidy
Meningocele, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the corpus callosum, Fin... ORPHA:3376
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hip dysplasia, Cerebellar vermis hypoplasia, Overlapping toe, Microphthalmia, Cerebral atrophy, O... OMIM:618494
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Cloacal Exstrophy
Myelomeningocele, Spina bifida, Hip dislocation, Abnormality of tibia morphology, Abnormality of ... ORPHA:93929
Adams-Oliver Syndrome 1