Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
eukaryotic translation initiation factor 3, subunit C
Synonyms:
110kDa,  NIPIL(A3),  Xsl,  3230401O13Rik,  Eif3s8,  Xs

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Eif3c 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 Eif3c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, White forelock, Osteopathia striata, Abnormality of... ORPHA:2779
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Camptosynpolydactyly, Complex
Small nail, Cutaneous syndactyly, Nail dysplasia, Polydactyly, Toenail dysplasia, Camptodactyly, ... OMIM:607539
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Book Syndrome
Premature graying of hair, Palmoplantar hyperhidrosis OMIM:112300
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Polydactyly, Postaxial, Type A8
Nail dysplasia, Short stature, Genu valgum, Postaxial polydactyly OMIM:618123
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Short stature, Polydactyly OMIM:617405
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Anonychia, Metatarsus adductus, Polydactyly, S... OMIM:613005
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Polydactyly OMIM:615990
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Upper-limb metaphyseal irregularit... OMIM:618728
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Mild short stature, Short thumb, Broad hallux, Short hallux, ... OMIM:618167
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Hy... ORPHA:1113
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis OMIM:277740
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Rhizomelia, Short metacarpal, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Joubert Syndrome 10
Hirsutism, Low-set ears, Postaxial polydactyly OMIM:300804
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Sparse scalp hair ORPHA:1003
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Clinodactyly of the 5th finger, Preaxial polydactyly, Sparse eyebrow, Sp... OMIM:129540
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Abnormality of ulnar metaphysis, Hypopigmentation of the skin, Narrow p... ORPHA:177910
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Multiple cafe-au-lait spots, Short thumb, Intrauterine growth retar... OMIM:609054
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Short Stature, Dauber-Argente Type
Long toe, Decreased fibular diameter, Arachnodactyly, Short stature, Long fingers, Postnatal grow... OMIM:619489
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, Heterochromia iridis, ... OMIM:148820
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Abnormal pinna morphology, Small nail, Finger syndactyly, Low-set ea... ORPHA:313781
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Low-set ears, Conductiv... OMIM:277170
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Joubert Syndrome 18
Camptodactyly, Intrauterine growth retardation, Polydactyly OMIM:614815
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, Intrauterine growth retardation, Long eyelashes, Thick eyebrow, High... OMIM:300590
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Filippi Syndrome
Single transverse palmar crease, Intrauterine growth retardation, Hypertrichosis, Cutaneous synda... OMIM:272440
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Nevus Comedonicus Syndrome
Abnormal hair morphology, Toe syndactyly, Preaxial polydactyly, Finger syndactyly ORPHA:64754
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... ORPHA:65759
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Ermine Phenotype
Toe syndactyly, Hypopigmentation of hair, Hypopigmented skin patches, Sensorineural hearing impai... ORPHA:999
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Aplasia/Hypoplasia of the nails, Multiple palmar creases, Preaxial... ORPHA:2756
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Low-set ears, Partial duplication of thumb phalanx, Po... OMIM:617926
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Upper limb asymmetry, Clinodactyly of the 5th finger, Polydactyly, Short stature, Postnatal growt... ORPHA:231140
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Shor... OMIM:617102
Biemond Syndrome Type 2
Short stature, Delayed puberty, Preaxial polydactyly ORPHA:141333
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Meckel Syndrome, Type 8
Talipes equinovarus, Postaxial hand polydactyly, Low-set ears, Polydactyly OMIM:613885
Muenke Syndrome
Carpal synostosis, Hypopigmentation of hair, Short palm, Hypopigmented skin patches, Sensorineura... ORPHA:53271
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Low-set ears, Overlapping fingers, Preaxial polydactyly, Highly ar... OMIM:618142
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Au-Kline Syndrome
Sparse lateral eyebrow, Microtia, Deep palmar crease, Postaxial polydactyly, Hip dysplasia, Overl... OMIM:616580
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Mend Syndrome
2-3 toe syndactyly, Low-set ears, Overlapping fingers, Polydactyly, Long fingers, Overlapping toe OMIM:300960
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Hypoplastic ischia, Low-set ears, Polydactyly OMIM:616910
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Low-set ears, Frontal hirsutism, Th... OMIM:618950
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Blue ... OMIM:614613
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Sandal gap, Broad distal phalanx of finger, Synophrys, Low anterior hairline, Posta... OMIM:615761
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short stature, Short long bone, Polydactyly OMIM:613819
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Aplasia/Hypoplasia of the eyebrow, Nail... OMIM:614091
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Small hand, Postnatal growth retardati... ORPHA:254525
Mullegama-Klein-Martinez Syndrome
Low-set ears, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Microtia, Curly e... OMIM:301022
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Postaxial polydactyly OMIM:614500
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Metaphyseal widening, Rhizome... OMIM:608940
Bardet-Biedl Syndrome 3
Brachydactyly, Pigmentary retinopathy, Postaxial polydactyly OMIM:600151
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short stature, S... OMIM:258860
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, E... ORPHA:397590
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... OMIM:615994
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Long fingers, Postnatal growth retardation, Talipes equinovarus OMIM:613355
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Synophrys, Intrauterine growth retardation, Postaxial polydactyly OMIM:615824
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Septooptic Dysplasia
Short stature, Short finger, Polydactyly OMIM:182230
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Curry-Jones Syndrome
Generalized hirsutism, Toe syndactyly, Foot polydactyly, Finger syndactyly, Hypopigmented skin pa... ORPHA:1553
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Nephronophthisis 15
Polydactyly OMIM:614845
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Syndactyly, Polydactyly OMIM:602501
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Squalene Synthase Deficiency
2-3 toe syndactyly, Low-set, posteriorly rotated ears, Macrotia, Slender long bone, Elbow flexion... OMIM:618156
Ivic Syndrome
Carpal bone hypoplasia, Small thenar eminence, Carpal synostosis, Absent thumb, Hypoplasia of the... OMIM:147750
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Clinodactyly of the 5th finger, Tapered finger, Postnatal growth retardation, Talipes equinovarus... OMIM:617219
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Intrauterine growth retardation, Polydactyly OMIM:603194
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Tapered finger, Highly arched eyebrow, Synophrys, Postaxial polydactyly, Hearing im... OMIM:613792
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Polydactyly, Onychogryposis, Talipes equinovarus, Syndactyly OMIM:603671
Joubert Syndrome 23
Polydactyly OMIM:616490
Joubert Syndrome 37
Sparse hair, Posteriorly rotated ears, Low-set ears, Postaxial polydactyly OMIM:619185
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Disproportionate short stature, Hypoplasti... OMIM:210720
Cardioacrofacial Dysplasia 1
Nail dysplasia, Genu valgum, Limb undergrowth, Postaxial polydactyly OMIM:619142
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Split hand, Foot polydactyly, Phocomelia ORPHA:3004
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Delayed epiphyseal ossification, Short palm, Short metacarpal, Short phalanx of fi... OMIM:611717
Tarp Syndrome
Clinodactyly, Prominent antihelix, Single transverse palmar crease, Low-set ears, Short sternum, ... OMIM:311900
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Sc phocomelia syndrome
Fair hair, Clinodactyly, Phocomelia, Absent radius, Short thumb, Aplasia of the ulna, Posteriorly... OMIM:269000
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Macrotia, Postaxial polydactyly ORPHA:544254
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Low-set ears, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Hypopla... OMIM:617895
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Hyperpigmented nevi and streak, Hand polydactyly, Macrodactyly, Syndactyly OMIM:149000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Short stature, Shor... OMIM:615503
Joubert Syndrome 14
Highly arched eyebrow, Posteriorly rotated ears, Low-set ears, Postaxial polydactyly OMIM:614424
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Intellectual Developmental Disorder, Autosomal Dominant 36
Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Deviation of the 5th finger, Hip dysplasia OMIM:616362
Dyggve-Melchior-Clausen Disease
Genu varum, Rhizomelic arm shortening, Clinodactyly of the 5th finger, Broad palm, Disproportiona... OMIM:223800
Joubert Syndrome 15
Polydactyly OMIM:614464
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Joubert Syndrome 16
Polydactyly OMIM:614465
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Endocrine-Cerebroosteodysplasia
Brachydactyly, Low-set ears, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Ulnar dev... OMIM:612651
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Chondrodysplasia Punctata 2, X-Linked Dominant
Bilateral talipes equinovarus, Patchy alopecia, Abnormality of pelvic girdle bone morphology, Hea... OMIM:302960
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Mild short stature, Polydacty... OMIM:169400
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Yunis-Varon Syndrome
Clinodactyly, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasia of the nails, Small earlobe... OMIM:216340
Cranioectodermal Dysplasia 3
Brachydactyly, Sandal gap, Broad nail, Fine hair, Sparse hair, Postaxial polydactyly, Short nail,... OMIM:614099
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Tarp Syndrome
Clinodactyly, Hypoplasia of proximal radius, Prominent antihelix, Small earlobe, Single transvers... ORPHA:2886
Autosomal Recessive Faciodigitogenital Syndrome
Brachydactyly, Widow's peak, Hypopigmentation of hair, Finger syndactyly, Coarse hair, Clinodacty... ORPHA:1974
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, 2-3 toe syndactyly, Low-set ears, Highly arched eyebrow, Broad distal... ORPHA:404440
Pseudoaminopterin Syndrome
Brachydactyly, Slender finger, Synostosis of carpal bones, Absent earlobe, Single transverse palm... ORPHA:221120
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Preaxial ... OMIM:617866
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Hip dysplasia, Polydactyly ORPHA:531151
3Mc Syndrome 3
Clinodactyly, Auricular pit, Preaxial polydactyly, Highly arched eyebrow, Radioulnar synostosis, ... OMIM:248340
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Senso... OMIM:611584
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Sensorineural hearing impairment, Tape... ORPHA:435638
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypertrichosis, Low-set ears, Unilateral breast hypoplasia, Tapered finger, Short foot, Hip dislo... OMIM:300968
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Congenital hip dislocation, Red hair, Hearing impairment OMIM:229200
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Orofaciodigital Syndrome Type 6
Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Conductive h... ORPHA:2754
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Irregular metacarpals, Broad hallux, Ulnar bowing, Short statu... OMIM:304120
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Congenital Sialidosis Type 2
Low-set ears, Generalized hypertrichosis, Hearing impairment, Polydactyly ORPHA:93400
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Polydactyly OMIM:616629
Adnp Syndrome
Abnormality of toe, Brachydactyly, Abnormality of the nail, Single transverse palmar crease, 2-3 ... ORPHA:404448
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Low-set, posteriorly rotated ears, Compl... ORPHA:59315
Brittle Cornea Syndrome
Abnormality of epiphysis morphology, Conductive hearing impairment, Sensorineural hearing impairm... ORPHA:90354
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Absent hallux, Metatarsus adductus, Absent toe OMIM:608279
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Bardet-Biedl Syndrome 1
Brachydactyly, Foot polydactyly, Hearing impairment, Postaxial hand polydactyly, Postaxial polyda... OMIM:209900
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Short palm, Low-set ears... ORPHA:90652
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Low-set ears, Polydactyly ORPHA:314655
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Meckel Syndrome, Type 10
Postaxial polydactyly OMIM:614175
Rabson-Mendenhall Syndrome
Premature graying of hair, Polydactyly, Onychauxis, Thick hair, Low anterior hairline, Macrotia, ... ORPHA:769
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Multiple ... ORPHA:3214
Meier-Gorlin Syndrome 7
Bowing of the legs, Clubbing, 2-3 toe syndactyly, Thin eyebrow, Preaxial polydactyly, Microtia, A... OMIM:617063
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Mesomelic arm shortening, Brachydactyly, Synostosis o... ORPHA:3103
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Single transverse palmar crease, Low-set ears, Rocker bottom foot, Lo... OMIM:617527
Orofaciodigital Syndrome I
Brachydactyly, Clinodactyly, Low-set ears, Sparse hair, Polydactyly, Alopecia, Short 2nd toe, Dry... OMIM:311200
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Nephronophthisis 13
Polydactyly OMIM:614377
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Abnormal 5th metacarpal morphology, Low-set ears, Rhizomelic arm shortening, Cone-... ORPHA:397715
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy OMIM:615190
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Legius Syndrome
Axillary freckling, Clinodactyly of the 5th finger, Multiple cafe-au-lait spots, Polydactyly, Ing... ORPHA:137605
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Low-set ears, Fibular hypoplasia, Dislocated radial ... OMIM:619297
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Prader-Willi Syndrome
Clinodactyly, Hypopigmentation of hair, Acromicria, Short palm, Hypopigmentation of the skin, Nar... OMIM:176270
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Low-set ears, Fibular hypoplasia, Preaxial polydactyly, ... OMIM:617925
Koolen-De Vries Syndrome
Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Overfolded helix, Protrudi... ORPHA:96169
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Low-set ears, Clinodactyly of the 5th finger, Polydactyly, Deep ... OMIM:247200
Degcags Syndrome
Short thumb, Hypertrichosis, Genu valgum, Hypopigmentation of the skin, Polydactyly, Hemihypotrop... OMIM:619488
Cranioectodermal Dysplasia 2
Brachydactyly, Clinodactyly, Low-set ears, Rhizomelia, Sparse eyebrow, Polydactyly, Postaxial han... OMIM:613610
Carpenter Syndrome 2
Brachydactyly, Low-set ears, Postaxial polydactyly, Aplasia of the middle phalanx of the hand, Se... OMIM:614976
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Low-set ears, Sandal gap, Postaxial hand polydactyly, Postaxial polyd... OMIM:174300
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Arachnodac... ORPHA:2719
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Hip dysplasia, Intrauterine growth retardation, Postaxial polydactyly OMIM:614576
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Aplastic clavicle, Preaxial polydactyly, Micromelia, Postaxial polydactyly OMIM:616546
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Preaxial polydactyly, Squared iliac bones, Hypoplastic pelvis, Macrotia, Postaxial po... OMIM:616300
Dyrk1A-Related Intellectual Disability Syndrome
Acromesomelia, Toe syndactyly, Clinodactyly of the 5th finger, Polydactyly, Arachnodactyly, Macro... ORPHA:464306
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Culler-Jones Syndrome
Short stature, Postaxial polydactyly OMIM:615849
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Blue ... ORPHA:280651
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dys... ORPHA:457284
Rubinstein-Taybi Syndrome 1
Clinodactyly of the 5th finger, Thick eyebrow, Highly arched eyebrow, Hypoplastic iliac wing, Sin... OMIM:180849
Choanal Atresia
Polydactyly ORPHA:137914
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Prader-Willi Syndrome Due To Translocation
Brachydactyly, Bilateral talipes equinovarus, Clinodactyly, Hypopigmentation of hair, Clinodactyl... ORPHA:177907
Faciocardiomelic Syndrome
Slender long bone, Short eyelashes, Hypoplastic pelvis, Polydactyly OMIM:612731
Vici Syndrome
Hypopigmentation of hair, Low-set ears, Sensorineural hearing impairment, Albinism, Hypopigmentat... OMIM:242840
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Microphthalmia, Syndromic 6
Brachydactyly, Toe syndactyly, Uplifted earlobe, Single transverse palmar crease, Finger syndacty... OMIM:607932
Khan-Khan-Katsanis Syndrome
Clinodactyly, Intrauterine growth retardation, Pigmentary retinopathy, Short stature, Postaxial p... OMIM:618460
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Hypertrichosis, Low-set ears, Short foot, Tapered finger, Congenital hip dislocat... ORPHA:480880
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Okamoto Syndrome
Abnormal helix morphology, Low-set ears, Polydactyly, Extension of hair growth on temples to late... ORPHA:2729
Basal Cell Nevus Syndrome
Brachydactyly, Irregular ossification of hand bones, Short distal phalanx of the thumb, Short 4th... OMIM:109400
Monosomy 9Q22.3
Palmar pits, Thickened ears, Low-set ears, Polydactyly ORPHA:77301
Chediak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Silver-gray hair, Ocular albinism, Giant ... OMIM:214500
Smith-Lemli-Opitz Syndrome
Brachydactyly, Hypopigmentation of hair, Finger syndactyly, 2-3 toe syndactyly, Postaxial foot po... ORPHA:818
Pallister-Hall Syndrome
Mesoaxial polydactyly, Supernumerary metacarpal bones, Atresia of the external auditory canal, Na... ORPHA:672
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, 2-4 toe cutaneous syndactyly, Tapered finger, Polydactyly, Short 5th toe, Bre... ORPHA:268261
Joubert Syndrome 39
Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Broad palm, Hypertrichosis, Posterior helix pit, Anterior creases of... OMIM:312870
Menkes Disease
Bowing of the long bones, Hypopigmentation of hair, Woolly hair, Abnormality of the metaphysis, T... ORPHA:565
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Ocular ... ORPHA:79430
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, Cupped ear, Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal... OMIM:149730
Stromme Syndrome
Preaxial polydactyly, Low-set ears OMIM:243605
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Trichiasis, Widened distal phalanges, Conductive hearing impairment, Sensorineural ... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Trichiasis, Widened distal phalanges, Conductive hearing impairment, Sensorineural ... ORPHA:353284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Supernumerary nipple, Talipes eq... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Supernumerary nipple, Talipes eq... ORPHA:352665
Vater/Vacterl Association
Intrauterine growth retardation, Absent radius, Preaxial polydactyly, Triphalangeal thumb, Short ... OMIM:192350
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Generalized hypopigmen... ORPHA:84064
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Sensorineural hearing impairment, Short femur, Short humerus, Polydactyly ORPHA:17
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Growth delay, Polydactyly, Abnormality of secondary sexual hair, Abnormal dig... ORPHA:95494
Loeys-Dietz Syndrome 2
Brachydactyly, Syndactyly, Protrusio acetabuli, Absent distal phalanges, Talipes equinovarus, Ara... OMIM:610168
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Posteriorly rotated ears, Low-set ears, Postaxial polydactyly OMIM:615948
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Broad first metatarsal, Polydactyly, Postaxial polydactyly, Broad thumb, Protruding... OMIM:619534

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 Eif3c

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 Eif3c.

No publications found that use IMPC mice or data for Eif3c.

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MGI Allele Allele Type Produced
Eif3ctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Eif3ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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