Gene Summary

Name:
C2 calcium-dependent domain containing 3
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity C2cd3em1(IMPC)Tcp HET Early adult 1.40×10-10
abnormal skin morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
embryonic growth retardation C2cd3em1(IMPC)Tcp HOM E9.5 0.00
increased neutrophil cell number C2cd3em1(IMPC)Tcp HET Early adult 8.22×10-07
enlarged urinary bladder C2cd3em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance C2cd3em1(IMPC)Tcp HOM   Early adult 0.00
abnormal uterus morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
decreased lymphocyte cell number C2cd3em1(IMPC)Tcp HET Early adult 4.60×10-05
embryonic lethality prior to tooth bud stage C2cd3em1(IMPC)Tcp HOM   E12.5 0.00
abnormal embryo size C2cd3em1(IMPC)Tcp HOM E9.5 0.00

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Viewing: all phenotypes

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

101 Images

Eye Morphology

Images Slit Lamp

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E9.5

Images

6 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by C2cd3 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 C2cd3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to C2cd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Pericardial effusion OMIM:613885
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal... OMIM:614815
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity ORPHA:75858
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida... ORPHA:2476
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Amed Syndrome, Digenic
Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, Thrombocytopenia, A... OMIM:619151
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... ORPHA:859
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Ventricular septal defect OMIM:602501
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Whim Syndrome 1
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... OMIM:193670
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... OMIM:614175
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, Partial duplication of... OMIM:617926
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly OMIM:611560
Pelger-Huet Anomaly
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Polydactyly... OMIM:169400
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... ORPHA:2211
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Flattened epiphysis, Ta... OMIM:607131
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Hemochromatosis, Type 3
Anemia, Hypogonadotropic hypogonadism, Lymphopenia, Neutropenia OMIM:604250
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Limited ... OMIM:147750
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Joubert Syndrome 39
Hypoplastic left heart, Postaxial polydactyly, Occipital encephalocele, Joint contracture of the ... OMIM:619562
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Oligohydramnios, Polydactyly, Clinodactyly of the... ORPHA:397590
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... OMIM:277170
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Oligohydramnios, Increased nuchal translucen... OMIM:619879
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Disorder Of Glycosylation, Type Iic
Compulsive behaviors, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus... OMIM:619721
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial hand pol... OMIM:611561
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... OMIM:616546
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal heart morphology, Ascites, Polydactyly, Hydrocephalus, Edema ORPHA:93400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Ascites, Polydactyly, Bowing of... OMIM:614091
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... OMIM:146510
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Nephronophthisis 15
Polydactyly OMIM:614845
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, Hip dysplasia OMIM:616362
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele OMIM:614424
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Ventricular septal defect OMIM:219730
Suleiman-El-Hattab Syndrome
Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Single transverse pal... OMIM:618950
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell... ORPHA:760
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
3P25.3 Microdeletion Syndrome
Acromesomelia, Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Postaxial p... ORPHA:435638
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... OMIM:619142
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve OMIM:618955
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Lymphopenia, Motor stereotypy, Hyperactivity ORPHA:391307
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus, Atrial septal defect, Ventricular septal defect OMIM:603387
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... OMIM:615503
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial septal defect, Hip dyspla... OMIM:614576
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy... OMIM:617895
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
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... ORPHA:3226
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Cardiac fibroma, Polydactyly... OMIM:109400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-positive T c... ORPHA:169160
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Oligohydramnios, Single transverse palmar crease, Neonatal dea... OMIM:311900
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t... ORPHA:59315
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ... OMIM:602450
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Overlapping toe, Postaxial polydactyly, Tapered finger OMIM:613792
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... OMIM:616300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity,... ORPHA:8
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Membranoproliferative glo... OMIM:619644
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Lymphopen... OMIM:617575
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Vaginal atresia, H... OMIM:617914
Joubert Syndrome 23
Polydactyly OMIM:616490
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equinovarus, Mening... OMIM:600145
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... OMIM:618314
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Proteinuria, Anemia, Neutropenia, Schistocytosis, Moderate proteinuria, ... OMIM:301110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula... ORPHA:404440
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity ORPHA:85327
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Hip dysplasia, Polydactyly ORPHA:531151
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Joubert Syndrome 27
Polydactyly OMIM:617120
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Polydactyl... OMIM:311200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap... ORPHA:397715
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Relapsing Fever
Acute kidney injury, Leukopenia, Leukocytosis, Hematuria, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Isolated Posterior Meningocele
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... ORPHA:268810
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Anorexia ORPHA:1302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hand polydactyly, Mesoaxial... ORPHA:2754
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Hypoplastic spl... OMIM:617053
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Cryptorchidism, Thrombocytopenia OMIM:620365
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca... OMIM:249000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:168558
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... OMIM:300960
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri... OMIM:618935
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:289548
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Herpes Simplex Virus Encephalitis
Addictive alcohol use, Leukocytosis, Neutrophilia ORPHA:1930
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... OMIM:210710
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Talipes eq... OMIM:180849
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Cardiac fibroma, Polydactyly, Hydrocephalus ORPHA:77301
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ... ORPHA:2237
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Leukocytosis, Leukopenia, Neutrophilia ORPHA:36238
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Aprosencephaly Syndrome
Finger aplasia, Aprosencephaly, Anencephaly OMIM:207770
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc... ORPHA:35078
Carpenter Syndrome 2
Broad thumb, Umbilical hernia, Preaxial polydactyly, Cutaneous finger syndactyly, Situs inversus ... OMIM:614976
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Oligohydramnios OMIM:615824
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... OMIM:614527
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia OMIM:616100
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac... ORPHA:404448
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Single transverse palmar crease, Polyda... OMIM:247200
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Hydronephrosis, Erythr... OMIM:612541
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ventricular septal defect, Postaxial... OMIM:174300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Polydactyly ORPHA:314655
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... OMIM:614083
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h... OMIM:209900
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia ORPHA:293173
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dislocation, Small hand, Postaxial polydactyly, Atrial septal defect, Hip dysplasia, Short fo... OMIM:300968
Meckel Syndrome 12
Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral hypoplasia OMIM:616258
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel... OMIM:102700
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Single trans... ORPHA:2886
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus OMIM:615300
Cerebrooculonasal Syndrome
Postaxial polydactyly, Hydrocephalus, Encephalocele, Postaxial hand polydactyly OMIM:605627
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Mitral valve prolapse, Patent foramen ovale, Ara... OMIM:610168
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Acromesomelia, Toe syndactyly, Oligohydramnios, Ventricular septal defect,... ORPHA:464306
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal defect, Posta... OMIM:619471
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Lipomyelomeningocele, Hip dysplasia, ... OMIM:616580
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Patent foramen ovale, Polydactyly, Left ventricular hypertrophy, Atrial... OMIM:613610
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular canal defect, F... OMIM:617925
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Charge Syndrome
Bifid femur, Umbilical hernia, Tetralogy of Fallot, Abnormal tibia morphology, Clinodactyly of th... ORPHA:138
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Leukocytosis, Splenomegaly, Autoimmune hemolytic anemia, Monoc... OMIM:620565
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Renal insufficiency, Splenomegaly, Decreased proportion of CD4-positi... ORPHA:3261
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Ventricular septal defect, Talipes equinovarus, 2-3 finger syndactyly, Atrial septal... OMIM:312870
Helsmoortel-Van Der Aa Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Abnormal heart morphology, Broad... OMIM:615873
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Hyperactivity, Aplasia of the vagina ORPHA:457284
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Neonatal death,... OMIM:619534
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Preaxial polydactyly, Ventricular septal defect, Atrial se... OMIM:615948
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Patent foramen ovale, Polydactyly, Sho... ORPHA:17
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Decreased testic... ORPHA:90794
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Horseshoe kidne... ORPHA:322
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... OMIM:601186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Legius Syndrome
Clinodactyly of the 5th finger, Pulmonic stenosis, Mitral valve prolapse, Polydactyly ORPHA:137605
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal heart morphology, Ol... ORPHA:268261
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Atrioventricular canal defect, Postaxial polydactyly, Short clavicles, Bra... OMIM:617088
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Leukocytosis, Aplasia of the uterus,... OMIM:274000
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Patent ductu... OMIM:619869
Kinsship Syndrome
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h... OMIM:619297
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Familial Mediterranean Fever
Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Neutrophilia, Hepatomegaly,... OMIM:249100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... ORPHA:353277
Whim Syndrome
Cervix cancer, Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Rabson-Mendenhall Syndrome
Polydactyly, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Ventri... OMIM:619488
Loeys-Dietz Syndrome 1
Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equinovarus, Postaxial poly... OMIM:609192
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... OMIM:301000
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Choanal Atresia
Polydactyly ORPHA:137914
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Hypopl... OMIM:618419
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Patent foramen ovale, Clinodactyly, Patent ductus arteriosus after prematu... OMIM:618460
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom... OMIM:260920
Faciocardiomelic Syndrome
Common atrium, Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... ORPHA:2729
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Clinodactyly of the 5th finger... OMIM:301022
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Alstrom Syndrome
Dilated cardiomyopathy, Polydactyly OMIM:203800
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Overlapping toe, Postaxia... ORPHA:480880
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Xerostomia, Short thumb, Broad hallux, Preaxial polydactyly, Radi... OMIM:149730
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of t... OMIM:135900
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... ORPHA:3464
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly, Abnormal digit morphology, Polydactyly ORPHA:95494
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Motor stereotypy, Hy... OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency OMIM:130050
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph... ORPHA:110
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Hypospadias OMIM:236680
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... OMIM:607932
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, Renal insufficienc... OMIM:107480
Norrie Disease
Self-injurious behavior, Uterine rupture, Cryptorchidism, Attention deficit hyperactivity disorde... ORPHA:649
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder diverticulum, Renovascular ... ORPHA:286
Peters Plus Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ureteral duplication, Hypoplasia of... ORPHA:709
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters-Plus Syndrome
Renal hypoplasia, Cryptorchidism, Hydronephrosis, Hypoplastic labia majora, Hypoplasia of the vag... OMIM:261540
Pallister-Killian Syndrome
Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Renal cyst, Aplas... OMIM:601803
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Ventricular septal defect, Dup... ORPHA:434179

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 C2cd3

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 C2cd3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Centriolar Protein C2cd3 Is Required for Craniofacial Development. Frontiers in cell and developmental biology (June 2021) C2cd3tm1a(EUCOMM)Wtsi PMC8239364

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
C2cd3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd3em1(IMPC)Tcp Exon Deletion Mice
C2cd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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