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Gene: Dync2i1 MGI:2445085

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Gene Summary

Name:
dynein 2 intermediate chain 1
Synonyms:
Wdr60,  D430033N04Rik,  Dync2l1

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
prenatal lethality prior to heart atrial septation Dync2i1em1(IMPC)Tcp HOM   E15.5 0.00
abnormal stomach morphology Dync2i1em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Dync2i1em1(IMPC)Tcp HOM   E12.5 0.00
abnormal embryo size Dync2i1em1(IMPC)Tcp HOM E9.5 0.00
preweaning lethality, complete penetrance Dync2i1em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Dync2i1em1(IMPC)Tcp HET Early adult 0.00
abnormal heart morphology Dync2i1em1(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Dync2i1em1(IMPC)Tcp HOM E9.5 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.

Eye Morphology

Images Ophthalmoscopy

93 Images

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Eye Morphology

Images Slit Lamp

47 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Gross Morphology Embryo E9.5

Images

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Dync2i1 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 Dync2i1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Micrognathia, Agenesis ... ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2i1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gastric Cancer
Increased level of L-fucose in urine, Stomach cancer OMIM:613659
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly ORPHA:945
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly ORPHA:294975
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Jawad Syndrome
Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Absent fourth finger dist... OMIM:251255
Thanatophoric Dysplasia Type 2
Micromelia, Increased nuchal translucency, Encephalocele, Hydrocephalus, Brachydactyly, Polyhydra... ORPHA:93274
Endocrine-Cerebroosteodysplasia
Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Tibial b... OMIM:612651
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Agenesis of corpus callosum,... OMIM:614120
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Malar flattening, Agenesis of corpus... OMIM:607131
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Finger syndactyly, Micromelia, Micrognathia, Encephaloc... ORPHA:1908
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Azoospermia, Narrow palm, Holoprosencephaly, Syndactyly ORPHA:1445
Distal Monosomy 7Q36
Micrognathia, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Holopro... ORPHA:1636
Monosomy 18P
Carious teeth, Lymphedema, Micrognathia, Brachydactyly, Holoprosencephaly ORPHA:1598
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Micrognathi... OMIM:619879
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Agnathia-Otocephaly Complex
Micrognathia, Agenesis of corpus callosum, Mandibular aplasia, Polyhydramnios, Holoprosencephaly OMIM:202650
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Micrognathia, Adducted thumb, Holoprosencephaly ORPHA:2570
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Bardet-Biedl Syndrome 7
Clinodactyly, Malar flattening, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
49,Xxxxy Syndrome
Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Elbow dislocation, Abnor... ORPHA:96264
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Ascites, Bowing of the arm, Neonatal ... OMIM:269860
Triploidy
Finger syndactyly, Micrognathia, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosencephaly ORPHA:3376
Lambotte Syndrome
Preaxial foot polydactyly, Semilobar holoprosencephaly, Retrognathia OMIM:245552
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Holoprosencephaly, Mandibular aplasia, Agenesis of corpus callosum ORPHA:990
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... OMIM:146510
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Trident pelvis, Agenesis of corpus callosum, Bowing of the... OMIM:614815
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb, Agenesis of corpus callosum OMIM:615433
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Holoprosencephaly, Anterior encephalocele, Short femur OMIM:601357
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... ORPHA:157798
Alpha-1-Antitrypsin Deficiency
Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Polyhydramn... ORPHA:1423
Isolated Exencephaly
Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Agenesis of corpus callosum,... ORPHA:563612
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Holoprosencephaly,... ORPHA:2163
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga OMIM:601370
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Talipes equin... ORPHA:63259
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Enamel agenesis, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brac... OMIM:614701
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormal morphology of the radius ORPHA:2165
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Pyloric stenosis ORPHA:664
Trisomy 18
Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Ol... ORPHA:3380
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, Agenesis of corpus callosum, 2-3 toe syndactyly, Hydro... OMIM:264480
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Polydactyly OMIM:614465
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Retrognathia, Short toe, Oli... ORPHA:2756
Orofaciodigital Syndrome Xvii
Retrognathia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of thumb ... OMIM:617926
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Genu valgum, Encephalocele, Postaxial polydacty... OMIM:611560
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Cone-shaped epip... OMIM:617102
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Agenesis of corpus callosum, Aplas... ORPHA:556955
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia, Encephalocele, Hydrocephalus, Postaxial hand polydact... ORPHA:2166
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Sandal gap, Holoprosencephaly, 3-4 finger cutaneous syndactyly OMIM:612530
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly, Molar tooth sign on MRI OMIM:614970
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Overlapping toe, Micrognathia, Overlapping fingers, Agenesis ... OMIM:618142
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly ORPHA:250999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Holoprose... OMIM:253800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... OMIM:614175
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia o... OMIM:610828
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Micrognathia, Agenesis of corpus callosum, Talipes equinovarus, Colp... OMIM:618651
Joubert Syndrome 40
Postaxial polydactyly, Molar tooth sign on MRI OMIM:619582
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Metatarsus valgus, Agenesis of corpus callosum, Talipes equinovarus, Hol... ORPHA:261236
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly, Preaxial polydactyly OMIM:614464
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Micr... OMIM:615948
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Pericardial effusion OMIM:613885
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly, Bowing of... OMIM:614091
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Micrognathia, Oligohydramnios, Polydactyly, Clinodactyly of the 5... ORPHA:397590
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Syndactyly OMIM:602501
Mosaic Variegated Aneuploidy Syndrome
Ascites, Micrognathia, Increased nuchal translucency, Polyhydramnios, Clinodactyly of the 5th fin... ORPHA:1052
Joubert Syndrome 27
Molar tooth sign on MRI, Polydactyly OMIM:617120
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Microretrognathia, Hip subluxation, Short toe, Short thumb, Microme... OMIM:270400
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Molar tooth sign on MRI, Preaxial polydactyly OMIM:614615
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty... OMIM:615465
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Single transverse pa... OMIM:617866
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Oligohydramnios, Micrognathia, Encephaloce... ORPHA:564
Monosomy 13Q14
Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of ... ORPHA:1587
Holoprosencephaly
Spinal dysraphism, Hypoplasia of the zygomatic bone, Branchial anomaly, Encephalocele, Hand polyd... ORPHA:2162
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Hypoplasia of the pons, Retrognathia, Olivopontocerebellar hypoplasia, Camptod... ORPHA:468631
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Pallister-Hall Syndrome
Toe syndactyly, Microretrognathia, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting... ORPHA:672
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypoplasia of the maxilla, Dental maloccl... OMIM:610829
Microtia-Anotia
Holoprosencephaly OMIM:600674
Holoprosencephaly 14
Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis of the corpus call... OMIM:619895
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Micrognathia, Sandal gap OMIM:615761
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Agenesis of corpus callosum, Postaxial polydactyly, Hy... OMIM:616362
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormal urinary color ORPHA:234
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Jacobsen Syndrome
Micrognathia, Brachydactyly, Hydrocephalus, Clinodactyly of the 5th finger, Holoprosencephaly OMIM:147791
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Hypoplasia of the brainstem, Preaxial polydactyly, Occipital menin... OMIM:616546
Nephronophthisis 15
Polydactyly OMIM:614845
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... OMIM:300048
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Microform Holoprosencephaly
Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Neonatal death, Agenesis of corpus... OMIM:618500
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Micrognathia, Single transverse palmar crease, Agenesis of corpus callosum, Clin... OMIM:613884
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ul... ORPHA:3186
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Genitourinary And/Or Brain Malformation Syndrome
Micrognathia, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Holoprosence... OMIM:618820
Ring Chromosome 7 Syndrome
Short 5th finger, Slender finger, Small hand, 3-4 toe syndactyly, Genu valgum, Malar flattening, ... ORPHA:1449
Solitary Median Maxillary Central Incisor
Holoprosencephaly OMIM:147250
Charge Syndrome
Bifid femur, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Abnormal tibia morpholo... ORPHA:138
Townes-Brocks Syndrome 1
Broad thumb, 3-4 finger syndactyly, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyse... OMIM:107480
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Postaxial polydactyly, Enamel hypoplasia, Hydrocephalus, Hip dysplasia, Peau d'orange OMIM:614576
Tarp Syndrome
Clinodactyly, Micrognathia, Oligohydramnios, Single transverse palmar crease, Neonatal death, Pos... OMIM:311900
Microtia
Holoprosencephaly ORPHA:83463
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Holoprosenceph... OMIM:184705
Septooptic Dysplasia
Polydactyly, Short finger, Agenesis of corpus callosum OMIM:182230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Preaxial polyd... OMIM:616300
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Malar flattening, Nonimm... OMIM:265300
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Postaxial polydactyly, 2-3 finger synda... ORPHA:435638
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Comple... ORPHA:59315
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Lateral ventricle dilatation, Rhizomelic arm shor... ORPHA:397715
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Suleiman-El-Hattab Syndrome
Microretrognathia, Clinodactyly, Single transverse palmar crease, Polydactyly, Brachydactyly OMIM:618950
Joubert Syndrome 14
Hypoplasia of the brainstem, Malar flattening, Encephalocele, Postaxial polydactyly, Hydrocephalu... OMIM:614424
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Overlapping toe, Micrognathia, Postaxial polydactyly, Tapered finger OMIM:613792
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Semilobar holoprosencephaly, Retrognathia, Clinodactyly, Broad hallux, Contracture of... OMIM:301044
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Gastroesopha... ORPHA:90291
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth OMIM:619142
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Splenomegaly, Esophageal varix OMIM:620367
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Agenesis of corpus callosum,... OMIM:301043
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Horseshoe kidney, Intestinal... ORPHA:2538
Congenital Sialidosis Type 2
Ascites, Hydrocephalus, Edema, Polydactyly ORPHA:93400
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Molar tooth sign on MRI, Postaxial hand p... OMIM:611134
Holoprosencephaly 3
Holoprosencephaly, Malar flattening OMIM:142945
Slc35A2-Cdg
Abnormal midbrain morphology, Aplasia/hypoplasia involving bones of the extremities, Short tibia,... ORPHA:356961
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Semilobar holoprosencephaly, Xerostomia, Toe syndactyly... OMIM:129900
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Micrognathia, Hand polydactyly, Mesoaxial polydactyly,... ORPHA:2754
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca... OMIM:169400
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus OMIM:219730
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse... OMIM:256300
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Splenomegaly, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Ethmoidal encephalocele, Hypoplasia of the pons ORPHA:280195
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Charge Syndrome
Bifid femur, Short thumb, Micrognathia, Malar flattening, Down-sloping shoulders, Hand polydactyl... OMIM:214800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Micrognathia, Single transverse palmar ... OMIM:247200
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Malar flattening, Agenesis of corpus callo... OMIM:157170
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation, Elbow disloca... OMIM:210710
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Clinodactyly, Radial deviation of finger, Myelomeningocele, Age... OMIM:311200
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Joubert Syndrome 37
Postaxial polydactyly, Molar tooth sign on MRI OMIM:619185
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Micrognathia, 2-3 toe syndactyly, Pos... ORPHA:404440
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Occipital encephalocele, Clinodactyly, Camptodactyly of ... OMIM:249000
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A... ORPHA:141127
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Oligohydramnios OMIM:615824
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Abnormal ethmoid bone mo... ORPHA:141099
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Abnormal digit morphology, Agenesis of corpus callosum ORPHA:95494
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis,... OMIM:617527
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger, Molar tooth ... OMIM:619562
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Retrognathia, Encephalocele, Agenesis of corpus callosum, Polyhydra... ORPHA:314621
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Hepatomegaly, Dysphagia ORPHA:779
Mend Syndrome
Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Overlapping fingers, Polydactyly,... OMIM:300960
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Agenesis of corpus callosum, Talipes equinovar... OMIM:180849
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Micrognathia, 2-3 toe syndactyly, Postaxial polydacty... OMIM:614099
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Micrognathia, Clinodact... ORPHA:221120
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Urinary incontinence, Neoplasm of the ... ORPHA:512
Stromme Syndrome
Preaxial polydactyly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Stillbirth OMIM:243605
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Hydronephrosis,... ORPHA:79403
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus OMIM:603387
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Macrodontia of permanent maxillary central incisor, Dental malocclu... ORPHA:444072
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Agenesis of corpus callosum, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, C... ORPHA:457284
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Hypoplasia ... OMIM:101400
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd... ORPHA:404448
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Retrognathia, Micrognathia, Polydactyly, Brachydactyly, Postaxial hand ... OMIM:613610
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Hypoplasia of the brainstem, Oligohydramnios, Polydactyly, Arachnodactyly, Hallux... ORPHA:464306
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Micrognathia, Polydactyly ORPHA:314655
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Neonatal death,... OMIM:617925
Kinsship Syndrome
Micrognathia, Single transverse palmar crease, Fibular hypoplasia, Polydactyly, Coxa valga, Dislo... OMIM:619297
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Lateral ventricle dilatation, Prominent fingertip pads, Sandal gap, Sh... OMIM:615873
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Posta... OMIM:174300
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Single transverse p... ORPHA:2886
Choanal Atresia
Chronic sinusitis, Polydactyly ORPHA:137914
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, Retrognathia, Hypoplasia of the brainstem, 2-4 toe cutaneous syndactyly, Oligohydr... ORPHA:268261
Hardikar Syndrome
Hydroureter, Intestinal malrotation, Hepatosplenomegaly, Pyelonephritis, Vesicoureteral reflux, R... OMIM:301068
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Carious teeth, Natal tooth, Dental malocclusion, Broad thumb, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Carious teeth, Natal tooth, Dental malocclusion, Broad thumb, Abn... ORPHA:353277
Monosomy 9Q22.3
Delayed eruption of teeth, Palmar pits, Hydrocephalus, Polydactyly ORPHA:77301
Holoprosencephaly 1
Alobar holoprosencephaly, Ethmocephaly, Agenesis of corpus callosum OMIM:236100
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Short thumb, Broad hallux, Preaxial po... OMIM:149730
Carpenter Syndrome 2
Broad thumb, Carious teeth, Dental malocclusion, Retrognathia, Preaxial polydactyly, Cutaneous fi... OMIM:614976
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Micrognathia, Hypoplastic pel... OMIM:612731
Au-Kline Syndrome
Dental malocclusion, Retrognathia, Overlapping toe, Postaxial polydactyly, Deep palmar crease, Li... OMIM:616580
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... OMIM:617088
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Japanese Encephalitis
Abnormal midbrain morphology, Distal upper limb muscle weakness, Abnormal substantia nigra morpho... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger OMIM:300968
Cerebrooculonasal Syndrome
Malar flattening, Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:605627
Neurocardiofaciodigital Syndrome
Polydactyly, Lateral ventricle dilatation, Retrognathia, Syndactyly OMIM:619869
Degcags Syndrome
Toe syndactyly, Retrognathia, Short thumb, Preaxial hand polydactyly, Micrognathia, Genu valgum, ... OMIM:619488
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, ... OMIM:312870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Increased nuchal translucency, Branchial anomaly, Agenesis of corpus callosu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Increased nuchal translucency, Branchial anomaly, Agenesis of corpus callosu... ORPHA:352665
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Colpocephaly, Micrognathia, Clinodactyly OMIM:618460
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Ureterocele, Congenital pyloric atresia, Hydronephrosis, Glomerular s... ORPHA:158684
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Mandibular prognathia, Polydactyly ORPHA:769
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Retrognathia, Micrognathia, Malar flattening, Absent distal phalan... OMIM:610168
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Generalized edema, Broad thumb, Lateral ventricle dilatation, Ascites, Neonatal death, Broad firs... OMIM:619534
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Short femur, Short humerus, Polydactyly ORPHA:17
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Sinusitis, Cerebral edema, A... ORPHA:68
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Loeys-Dietz Syndrome 1
Retrognathia, Micrognathia, Malar flattening, Arachnodactyly, Talipes equinovarus, Postaxial poly... OMIM:609192
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Retrognathia, Thumb contracture, Micrognathia, Single transver... OMIM:607932
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly ORPHA:137605
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Micrognathia, Polydactyly OMIM:301022
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Micrognathia, Branchial anomal... OMIM:113620
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Hypoplasia of the brainstem, Overlapping ... ORPHA:480880
Alstrom Syndrome
Polydactyly OMIM:203800
Okamoto Syndrome
Oligohydramnios, Hip dysplasia, Polydactyly ORPHA:2729
Williams Syndrome
Rectal prolapse, Gastroesophageal reflux, Renal insufficiency, Multiple renal cysts, Renovascular... ORPHA:904
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Retrognathia, Postaxial polydactyly,... ORPHA:110
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Micrognathia, Agenesis ... ORPHA:93271
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Brachydactyly ORPHA:293987

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 Dync2i1

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 Dync2i1.

No publications found that use IMPC mice or data for Dync2i1.

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
Dync2i1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dync2i1em1(IMPC)Tcp Exon Deletion Mice
Dync2i1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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