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Gene: Dad1 MGI:101912

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
defender against cell death 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dad1 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 Dad1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Chromosome 2Q31.1 Duplication Syndrome
Short stature, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, T... OMIM:613681
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous ... OMIM:600384
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short stature ORPHA:238446
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalange... ORPHA:1113
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly o... ORPHA:3268
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Gordon Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5t... ORPHA:376
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... ORPHA:65759
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... ORPHA:370010
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... ORPHA:1263
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, ... ORPHA:166024
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Short stature, Anisocytosis, Anemia of inadequate production, Spleno... OMIM:615631
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Short stature, Brachydactyly OMIM:610023
Summitt Syndrome
Syndactyly OMIM:272350
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Cryptorchi... OMIM:600325
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Severe short stature, Camptodactyly of finger, Short thumb, Palmoplantar kerat... ORPHA:2251
Bardet-Biedl Syndrome 4
Cryptorchidism, Brachydactyly, Polydactyly, Syndactyly OMIM:615982
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Monosomy 5P
Finger syndactyly, Small hand, Short stature, Intrauterine growth retardation ORPHA:281
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Delayed... ORPHA:1825
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... OMIM:603543
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Osteolysis involving bo... ORPHA:88630
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial hand polydactyly... OMIM:175700
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten deformity, Neo... OMIM:609638
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Short stature OMIM:300484
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation... OMIM:272440
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Schizophrenia 1
Syndactyly, Short stature, Short proximal phalanx of the 4th toe OMIM:181510
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... ORPHA:3429
Laurence-Moon Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Short stature, Cryptorchidism, Han... ORPHA:2377
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... OMIM:157900
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... ORPHA:1788
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Triphalangeal thumb, D... ORPHA:2994
Hypomelanosis Of Ito
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Short stature, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5... OMIM:619451
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Split hand, Intrauterine growth retardation, Brachy... ORPHA:2145
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Cryptorchidism, Large hands, Talipes equi... ORPHA:3447
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Supernumerary nipple,... ORPHA:3255
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short stature, Short first metatarsal, Short 5th toe, Prominent fingert... OMIM:613684
Silver-Russell Syndrome 1
Syndactyly, Decreased response to growth hormone stimulation test, Short distal phalanx of the 5t... OMIM:180860
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodac... ORPHA:397590
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short stature, Symphalangism affecting the phalanges of the han... ORPHA:710
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Single transverse palmar crease, Mo... OMIM:615777
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Still... OMIM:236500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo... OMIM:615503
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... OMIM:305400
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Adams-Oliver Syndrome 6
Splenomegaly, Brachydactyly, Foot oligodactyly, Syndactyly OMIM:616589
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Pelvis-Shoulder Dysplasia
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... ORPHA:2839
Ring Chromosome 21 Syndrome
Syndactyly, Short stature, Small hand, Narrow palm, Clinodactyly ORPHA:1445
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Mild postnatal growth retardation, Anemia of inade... OMIM:224120
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Short palm, Intrauterine growt... ORPHA:73246
Mohr Syndrome
Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys... OMIM:252100
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Short stature, Postnatal growth retardation, Small hand, C... OMIM:616489
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Hypoplasia of the ulna, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Shor... ORPHA:2256
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Short stature ORPHA:1514
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cryptorchidism, Talip... ORPHA:1512
Aarskog-Scott Syndrome
Finger syndactyly, Short stature, Single transverse palmar crease, Camptodactyly of finger, Crypt... ORPHA:915
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... OMIM:300963
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Leukemia, Polydactyly OMIM:602501
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal hip bone morphology, Intraute... ORPHA:1323
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Growth delay, Syndactyly, Camptodactyly OMIM:616006
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn... ORPHA:2437
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... OMIM:614091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly OMIM:619092
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... OMIM:614800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Severe short stature, Abnormality of the elbow, Hip dislocation, Moderate post... ORPHA:1005
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Short stature, 2-3 toe syndactyly, Cutaneous syndacty... OMIM:600987
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Oliver Syndrome
Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi... ORPHA:2920
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Short stature, Cryptorchidism, Small hand, Short palm, Clinodac... ORPHA:1786
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Short stature, Hand polydactyly, Broad thumb OMIM:239710
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly ORPHA:251046
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Cryptorchidis... ORPHA:435938
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Cryptorchidi... ORPHA:217346
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpusc... ORPHA:2169
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Brachydactyly, Severe short stature, Proximal placement of thumb, Anisopoikilocytosis... OMIM:615789
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Larsen Syndrome
Finger syndactyly, Brachydactyly, Short stature, Cryptorchidism, Accessory carpal bones, Abnormal... ORPHA:503
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Men... ORPHA:1908
Pallister-Hall Syndrome
Thyroid dysgenesis, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to... OMIM:146510
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... ORPHA:3103
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ... OMIM:619762
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormal metacarpal morpho... ORPHA:3224
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Supernumerary ... ORPHA:1001
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Split ... ORPHA:2008
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Thrombocytopenia OMIM:614520
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Short stature, Abnormality of the hand, Cryptorchidism, Camptodactyly, Umbilical hern... ORPHA:369891
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... ORPHA:783
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Adams-Oliver Syndrome 5
Syndactyly, Hypersplenism, Splenomegaly, Umbilical hernia, Brachydactyly OMIM:616028
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta ORPHA:2475
Kbg Syndrome
Short stature, Single transverse palmar crease, Cryptorchidism, Cutaneous syndactyly, Finger clin... ORPHA:2332
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, 2-3 finger syndactyly ORPHA:1338
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Hypopla... ORPHA:246
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Supernumerary nipple, Tapered finger, ... OMIM:605039
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93259
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Ritscher-Schinzel Syndrome 1
Syndactyly, Decreased response to growth hormone stimulation test, Intrauterine growth retardation OMIM:220210
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly ORPHA:261272
Ring Chromosome 12 Syndrome
Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Growth delay, Symphalangism of the th... ORPHA:1439
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, Intrauterine growth... ORPHA:158687
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Short stature, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radiou... OMIM:614701
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Cryptorchidism, Nar... ORPHA:193
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Syndactyly, Congenital hip dislocation, Supernumerary nipple, Postnatal g... OMIM:263750
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Leukopenia,... ORPHA:974
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... ORPHA:958
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Cryptorchidism, Deep palmar crease, Short palm, ... ORPHA:254346
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Short stature, Bilateral cryptorchidism, Central Y-shaped meta... ORPHA:2754
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Cryptorchidis... OMIM:123450
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Cryptorchidism, Long fingers, Cutaneous syndactyly, Overlapping fingers OMIM:618316
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Meningocele, Umbilical... ORPHA:2311
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Supernumerary nipple ORPHA:1433
Long Qt Syndrome 8
Syndactyly OMIM:618447
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
Hamamy Syndrome
Hypoparathyroidism, Syndactyly, Long toe, Down-sloping shoulders, Microcytic anemia, Tapered fing... OMIM:611174
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal ORPHA:1787
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Cryptorchidism, Delayed epiphyseal ossific... OMIM:101200
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... ORPHA:1234
Prader-Willi Syndrome
Syndactyly, Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:176270
Alkuraya-Kucinskas Syndrome
Overlapping toe, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand clenching, Overla... OMIM:617822
Bardet-Biedl Syndrome
Finger syndactyly, Short stature, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the o... ORPHA:110
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Single transverse palmar crease, Short stature, Tapered finger, C... OMIM:619148
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Arachnodactyly, Long palm, Camptodactyly of finger, Tape... ORPHA:2215
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Syndactyly, Decreased response to growth hormone stimulation te... ORPHA:96182
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
X Small Rings
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... ORPHA:96201
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... ORPHA:93260
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Intrauterine growth retardation OMIM:616038
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Short stature, Anterior pituitary hypoplasia... OMIM:151050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly ORPHA:60040
Opitz-Kaveggia Syndrome
Syndactyly, Broad hallux, Single transverse palmar crease, Short stature, Cryptorchidism, Split h... OMIM:305450
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Finger syndactyly ORPHA:1252
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short stature, Cryptorchi... OMIM:265000
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... ORPHA:794
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Short stature ORPHA:66629
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finger OMIM:618505
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Cryptorchidism, Finger syndactyly, Proximal placement of thumb ORPHA:139471
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Cryptorchidism, Short palm, Clinodactyly, Brachydactyly OMIM:217980
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... OMIM:603671
Triploidy
Cryptorchidism, Meningocele, Finger syndactyly, Intrauterine growth retardation ORPHA:3376
Bloom Syndrome
Syndactyly, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Growth delay, ... OMIM:210900
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, ... ORPHA:264200
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Finger syndactyly, Sandal gap, Camptodactyly of finger ORPHA:178303
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ... ORPHA:2473
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Short stature, Single trans... ORPHA:93932
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Umbilical hernia, Cubitus valgus OMIM:104350
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... OMIM:272950
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse palmar crease, Deviati... ORPHA:464738
Kbg Syndrome
Syndactyly, Short stature, Single transverse palmar crease, Cryptorchidism, Cutaneous syndactyly,... OMIM:148050
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Short stature, Short tibia, Adactyly, Broad first metatarsal, Po... ORPHA:2751
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... ORPHA:2911
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Umbilical hernia, Abnormal met... ORPHA:1517
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... ORPHA:2886
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Abnormality of the ovary, Postaxia... OMIM:209900
3C Syndrome
Finger syndactyly, Short stature, Postnatal growth retardation, Hand polydactyly, Abnormal hip bo... ORPHA:7
Microphthalmia, Lenz Type
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Abnormal shoulder morp... ORPHA:568
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cryptorchidism, Growth delay, Camptodactyly, Absent palmar crease OMIM:614230
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Int... ORPHA:1708
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Cryptorchidism, Anencephal... ORPHA:887
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Decreased resp... ORPHA:1896
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Cryptorchid... OMIM:227330
Adult Syndrome
Finger syndactyly, Absent nipple, Toe syndactyly, Split foot, Hypoplastic nipples, Breast hypoplasia ORPHA:978
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx ORPHA:59315
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Cryptorchidism, Mesomelia, Clinodactyly, Short phalanx of finger, Broa... OMIM:616894
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short... OMIM:263650
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... ORPHA:2092
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Spina bifida,... OMIM:256520
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Meckel Syndrome, Type 1
Accessory spleen, Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of... OMIM:249000
Limb-Mammary Syndrome
Syndactyly, Absent nipple, Toe syndactyly, 3-4 finger cutaneous syndactyly, Bilateral breast hypo... ORPHA:69085
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Spina bifida, Cryptorchid... ORPHA:2308
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cuta... OMIM:620029
Rapp-Hodgkin Syndrome
Syndactyly, Short stature, Supernumerary nipple, 2-3 toe cutaneous syndactyly, Palmoplantar kerat... OMIM:129400
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge... ORPHA:84
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Cryptorchidism, Preaxial hand polydacty... ORPHA:261318
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Hypochromic ... ORPHA:96123
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Symphalangism affectin... ORPHA:2990
Cerebrofacioarticular Syndrome
Syndactyly, Short stature, Talipes equinovarus, Camptodactyly, Caudal appendage ORPHA:314679
Constricting Bands, Congenital
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus OMIM:217100
Autosomal Dominant Popliteal Pterygium Syndrome
Cryptorchidism, Split hand, Finger syndactyly, Toe syndactyly ORPHA:1300
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Short stature OMIM:616430
Orofaciodigital Syndrome I
Syndactyly, Short stature, Pancreatic cysts, Myelomeningocele, Ovarian cyst, Short 2nd toe, Polyd... OMIM:311200
Dubowitz Syndrome
Syndactyly, Aplastic anemia, Single transverse palmar crease, Short stature, Postnatal growth ret... OMIM:223370
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Clinodactyly of the 5th finger... ORPHA:1587
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing... OMIM:180849
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Ovarian neoplasm,... ORPHA:87
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Postnatal growth r... OMIM:192350
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Absen... ORPHA:284160
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Pancreatic cysts, Preaxial hand polydactyly, Short toe, Pos... ORPHA:2750
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Severe short stature, Aplastic clavicle, Cryptorchidism, Abnormal metacarpal m... ORPHA:2658
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Short stature, Proximal placement of thumb, Cryptorchidism, Postax... ORPHA:818
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Intrauterine growth retardation... ORPHA:1556
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Supernume... ORPHA:373
Incontinentia Pigmenti
Finger syndactyly, Short stature, Eosinophilia, Supernumerary nipple, Camptodactyly of finger, Ab... ORPHA:464
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Severe short stature, Short stature, Camptodactyly of finger, Micromelia, Coxa... ORPHA:3107
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... ORPHA:3253
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Phocomelia, Wrist flexion contracture, Accessory spleen, Syndactyly, Hypoplasia ... OMIM:268300
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Short stature, Splenomegaly, Postaxial hand polydactyly, Bile duct prolif... OMIM:613610
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... OMIM:236700
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Short stature, Down-sloping shoulders, Short foot, Clinodactyly of the 5th fin... ORPHA:1974
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Severe short stature, Monorchism, Camptodactyly of ... ORPHA:2753
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Short stature, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Intraut... OMIM:616975
Robinow Syndrome
Syndactyly, Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Cryptorchidism, Meso... ORPHA:97360
Peters-Plus Syndrome
Single transverse palmar crease, Bilobate gallbladder, Limited elbow movement, Proximal placement... OMIM:261540
Degcags Syndrome
Syndactyly, Pancytopenia, Toe syndactyly, Congenital hypoplastic anemia, Cryptorchidism, Hemihypo... OMIM:619488
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Genu varum ORPHA:1969
Fraser Syndrome 3
Short toe, Stillbirth, Cutaneous syndactyly OMIM:617667
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Supe... ORPHA:1521
Hartsfield Syndrome
Syndactyly, Cryptorchidism, Gonadotropin deficiency, Growth delay, Ectrodactyly OMIM:615465
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal ... ORPHA:2907
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Short stature, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Breast apl... OMIM:181270
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit... ORPHA:353277
Fontaine Progeroid Syndrome
Syndactyly, Absent nipple, Short stature, Cryptorchidism, Deep palmar crease, Absent distal phala... OMIM:612289
Fraser Syndrome 2
Hypoplasia of the thymus, Cutaneous syndactyly OMIM:617666
Hennekam Syndrome
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Splenomegaly, Lymp... ORPHA:2136
Proteus Syndrome
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Testicular neoplasm, Metatars... ORPHA:744
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... OMIM:610168
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Scapular winging, Short metacarpal, Mild postnatal growth retardation, Single transve... OMIM:150230
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Cryptorchidism, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5... OMIM:620025
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Cryptorchidism, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, B... ORPHA:1519
Doors Syndrome
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology,... ORPHA:79500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Supernumerary nipple ORPHA:1071
Neurocardiofaciodigital Syndrome
Syndactyly, Polydactyly, Short stature OMIM:619869
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Anemia, Palmoplantar keratoderma, Short 4th metacarpa... ORPHA:2908
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Coffin-Siris Syndrome 12
Short stature, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Cutaneous syndactyly... OMIM:619325
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Streak ovary, Syndactyly OMIM:618820
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly, Splenomegaly, Br... OMIM:619534
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, S... ORPHA:261537
Fraser Syndrome
Encephalocele, Finger syndactyly, Toe syndactyly, Cryptorchidism, Myelomeningocele, Umbilical her... ORPHA:2052
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Umbilical hernia OMIM:620330
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Short stature, Ta... ORPHA:2152
Microphthalmia, Syndromic 1
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cryptorchidism, Growth delay... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, S... ORPHA:261552

Histopathology

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

There is no histopathology data for Dad1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dad1.

No publications found that use IMPC mice or data for Dad1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dad1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dad1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dad1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dad1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dad1tm212975(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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