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Gene: Eif3c MGI:1926966

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

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 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
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... ORPHA:2779
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Camptosynpolydactyly, Complex
Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail... OMIM:607539
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Book Syndrome
Premature graying of hair, Palmoplantar hyperhidrosis OMIM:112300
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Polydactyly, Postaxial, Type A8
Nail dysplasia, Short stature, Postaxial polydactyly, Genu valgum OMIM:618123
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Polydactyly OMIM:615990
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
White Forelock With Malformations
White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Aphalangy-Syndactyly-Microcephaly Syndrome
Hypoplastic fingernail, Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasi... ORPHA:1113
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Polydactyly, Postaxial, Type A6
Abnormal sweat gland morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Broad ph... OMIM:615226
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Joubert Syndrome 10
Low-set ears, Hirsutism, Postaxial polydactyly OMIM:300804
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Scalp Defects-Postaxial Polydactyly Syndrome
Sparse scalp hair, Postaxial polydactyly type A ORPHA:1003
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Preaxial polyd... OMIM:617927
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo... ORPHA:177910
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Short thumb, Postnatal growth retardation, Intrauterine growth retar... OMIM:609054
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
20P13 Microdeletion Syndrome
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Sy... ORPHA:313781
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Short stature, Brachydactyly OMIM:613819
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Waardenburg Syndrome, Type 3
Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Sensorineural hearing imp... OMIM:148820
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
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Laurence-Moon Syndrome
Pigmentary retinopathy, Short stature, Polydactyly, Abnormality of the hand OMIM:245800
Cornelia De Lange Syndrome 2
Thick eyebrow, Short stature, Proximal placement of thumb, Limited elbow movement, Highly arched ... OMIM:300590
Short Stature, Dauber-Argente Type
Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation... OMIM:619489
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... OMIM:617102
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Nevus Comedonicus Syndrome
Abnormal hair morphology, Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... OMIM:615986
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Sensorineural hearing impairment, Ocular albinism, Hypo... ORPHA:999
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, Clinodactyly of t... ORPHA:231140
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Biemond Syndrome Type 2
Preaxial polydactyly, Short stature, Delayed puberty ORPHA:141333
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Short stature OMIM:300484
Suleiman-El-Hattab Syndrome
Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal hirsutism, Hearing... OMIM:618950
Bardet-Biedl Syndrome 16
Polydactyly, Hearing impairment OMIM:615993
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Sensorineural hearing impairm... ORPHA:53271
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Blue irides, Cone-shap... OMIM:614613
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Intellectual Developmental Disorder, Autosomal Dominant 23
Sandal gap, Postaxial polydactyly, Synophrys, Low anterior hairline, Broad distal phalanx of fing... OMIM:615761
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Bilateral ta... OMIM:618142
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Obesity And Hypopigmentation
Red hair OMIM:620195
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Polydactyly, Low-set ears, Hypoplastic ischia OMIM:616910
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Small hand, Short foot, Intrauterine growth retardation... ORPHA:254525
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly OMIM:600151
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Tibi... OMIM:608940
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyl... OMIM:619721
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short f... OMIM:258860
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Low-set ears... OMIM:607131
Septooptic Dysplasia
Short stature, Polydactyly, Short finger OMIM:182230
Nephronophthisis 15
Polydactyly OMIM:614845
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Postnatal growth retardation, Short 5th finger, Polydactyly, Ectrodactyly, Clinodacty... ORPHA:397590
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... OMIM:615994
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Joubert Syndrome 23
Sensorineural hearing impairment, Polydactyly OMIM:616490
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnorm... OMIM:206920
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Y-shaped metacarpa... OMIM:615996
Squalene Synthase Deficiency
Posteriorly rotated ears, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigm... OMIM:618156
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop... ORPHA:1553
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Large earlobe OMIM:602501
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodacty... OMIM:614815
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of... OMIM:617219
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Polydactyly OMIM:613464
Bardet-Biedl Syndrome 6
Syndactyly, Pigmentary retinopathy, Postaxial polydactyly OMIM:605231
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Joubert Syndrome 37
Sparse hair, Low-set ears, Postaxial polydactyly, Posteriorly rotated ears OMIM:619185
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Short stature, Foot polydactyly ORPHA:3004
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered finger, Synophrys, Low-set... OMIM:613792
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polydactyly, Postaxial hand pol... OMIM:614175
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Cardioacrofacial Dysplasia 1
Limb undergrowth, Nail dysplasia, Postaxial polydactyly, Genu valgum OMIM:619142
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Low-set ears OMIM:613885
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Macrotia, Postaxial polydactyly ORPHA:544254
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili... OMIM:611717
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... OMIM:615503
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, E... OMIM:302960
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Low-se... OMIM:617895
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:607361
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, 2-3 toe syndactyly... OMIM:614099
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Pelger-Huet Anomaly
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Mild short stature, Short 4th metacarp... OMIM:169400
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak OMIM:149000
Joubert Syndrome 27
Polydactyly OMIM:617120
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Highly arched eyebrow, Low anterior hairline, 2-3 toe syndactyly, Postaxia... ORPHA:404440
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Po... OMIM:277170
3Mc Syndrome 3
Abnormal pinna morphology, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosis, Au... OMIM:248340
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Down-sloping sho... ORPHA:1974
Tarp Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... OMIM:311900
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... ORPHA:2886
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Brachydactyly, Overlapping toe, Single tran... ORPHA:221120
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Hip dysplasia, Polydactyly ORPHA:531151
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Cent... ORPHA:2754
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Single transverse palm... OMIM:618541
Brittle Cornea Syndrome 1
Palmoplantar cutis laxa, Congenital hip dislocation, Red hair, Hearing impairment OMIM:229200
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Synophrys, Postaxial polydactyly, Sensorineural hearing impairment OMIM:615824
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Congenital Sialidosis Type 2
Hearing impairment, Polydactyly, Low-set ears, Generalized hypertrichosis ORPHA:93400
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Adnp Syndrome
Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpho... ORPHA:404448
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Posteriorly rotated ears, Postaxial polydactyly, Tapered finger, Hearing impairment, Small hand, ... OMIM:300968
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Abnormality of hair pigmentation... ORPHA:90354
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Finger syndactyly, Polydactyly, Complete duplication of thumb ... ORPHA:59315
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Mend Syndrome
Overlapping toe, Broad hallux, Posteriorly rotated ears, Long fingers, 2-3 toe syndactyly, Spotty... OMIM:300960
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Low-set ears, Sparse lateral eyebrow ORPHA:314655
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Abnormal pinna morphology, Tarsal synostosis, Short hallux, Camptodacty... ORPHA:90652
Retinitis Pigmentosa 74
Pigmentary retinopathy, Polydactyly OMIM:616562
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Bardet-Biedl Syndrome 1
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Hearing impairment, P... OMIM:209900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact... OMIM:617527
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... ORPHA:3214
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Rabson-Mendenhall Syndrome
Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Polydactyly, Macrotia, ... ORPHA:769
Joubert Syndrome 14
Highly arched eyebrow, Low-set ears, Postaxial polydactyly, Posteriorly rotated ears OMIM:614424
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxial polydactyly, Fla... OMIM:616300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Abnormal acetabulum morphology, Postaxial polydactyly, Supernu... ORPHA:397715
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Orofaciodigital Syndrome I
Syndactyly, Dry hair, Alopecia, Hearing impairment, Short 2nd toe, Polydactyly, Radial deviation ... OMIM:311200
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fibular ... OMIM:619297
Mullegama-Klein-Martinez Syndrome
Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Absent stapes, Microtia... OMIM:301022
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, F... OMIM:617925
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Carpenter Syndrome 2
Single transverse palmar crease, Preaxial polydactyly, Low anterior hairline, Coxa vara, Protrudi... OMIM:614976
Koolen-De Vries Syndrome
Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Hip dislocation, Protrudin... ORPHA:96169
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Low anterior hairline, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Orofaciodigital Syndrome V
Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Low-se... OMIM:174300
Prader-Willi Syndrome
Syndactyly, Hypopigmentation of hair, Acromicria, Small hand, Narrow palm, Genu valgum, Short foo... OMIM:176270
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Miller-Dieker Lissencephaly Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Deep palmar crease, Polydactyly, Low-s... OMIM:247200
Degcags Syndrome
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Hy... OMIM:619488
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Sensorineural hearing impair... ORPHA:2719
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Intrauterine growth retardation, Hip dysplasia, Postaxial polydactyly OMIM:614576
Cerebrooculonasal Syndrome
Sparse eyelashes, Posteriorly rotated ears, Postaxial polydactyly, Sparse eyebrow, Postaxial hand... OMIM:605627
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Simple ear, Postaxial hand polydactyly,... OMIM:613610
Neurocardiofaciodigital Syndrome
Syndactyly, Sparse eyebrow, Polydactyly, Sparse hair, Hearing impairment OMIM:619869
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Protruding ear, Polydactyly, Acromesomelia, Clinod... ORPHA:464306
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Posteriorly rotated ears, Tapered finger, Cupped ear, Small hand, Genu ... OMIM:615873
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Legius Syndrome
Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots, Diaphyseal dysplasia, Polyda... ORPHA:137605
Culler-Jones Syndrome
Short stature, Postaxial polydactyly OMIM:615849
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Small hand, Short foot, Bilater... ORPHA:177907
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... OMIM:617088
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Sensorineural hearing i... OMIM:616580
Choanal Atresia
Polydactyly ORPHA:137914
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia, Clinodactyly of the 5th ... ORPHA:457284
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis, Short eyelashes OMIM:612731
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Low-set ears OMIM:616546
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Single transverse... OMIM:607932
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Postaxial polydactyly, Trichiasis, Sensorineural hearing impairment, Pigme... OMIM:618460
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly, Short dis... OMIM:109400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Curly hair, Low-set, posteriorly rotated ears, Congenital hip dislocation, Overlap... ORPHA:480880
Monosomy 9Q22.3
Palmar pits, Thickened ears, Polydactyly, Low-set ears ORPHA:77301
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypopigmentation of hair, Rhizomelia, Proxi... ORPHA:818
Okamoto Syndrome
Extension of hair growth on temples to lateral eyebrow, Hip dysplasia, Polydactyly, Low-set ears,... ORPHA:2729
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Radial bowing, Microtia, Auricular tag,... ORPHA:672
Joubert Syndrome 39
Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Absent radius, Short thumb, Parti... OMIM:149730
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm... ORPHA:163746
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Tapered finger, Abnormal toe morphology, Protruding ear, Polydactyly, Breast aplas... ORPHA:268261
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Posterior helix pit, Short greater sciatic notch, Anter... OMIM:312870
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h... OMIM:249000
Stromme Syndrome
Preaxial polydactyly, Low-set ears OMIM:243605
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, Avascular n... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, Avascular n... ORPHA:353277
Menkes Disease
Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Sparse hair, Woolly hair, ... ORPHA:565
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Sensorineural hearing impairment, Short femur, Polydactyly ORPHA:17
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... OMIM:192350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Postaxial polydactyly, Sensorineural hearing impairment, Protruding ear, Hi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Postaxial polydactyly, Sensorineural hearing impairment, Protruding ear, Hi... ORPHA:352665
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Growth delay, Polydactyly, Abnormality of secondary sexual hair, Delayed pube... ORPHA:95494
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... OMIM:610168
Orofaciodigital Syndrome Xiv
Posteriorly rotated ears, Broad hallux, Postaxial hand polydactyly, Preaxial polydactyly, Low-set... OMIM:615948
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Broad first metatarsal, Protruding ear, Polydactyly, Low-set e... 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.

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
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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