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Gene: C2cd3 MGI:2142166

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage C2cd3em1(IMPC)Tcp HOM   E12.5 0.00
increased neutrophil cell number C2cd3em1(IMPC)Tcp HET Early adult 8.22×10-07
hyperactivity C2cd3em1(IMPC)Tcp HET Early adult 8.54×10-11
preweaning lethality, complete penetrance C2cd3em1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
abnormal embryo size C2cd3em1(IMPC)Tcp HOM E9.5 0.00
abnormal uterus morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder C2cd3em1(IMPC)Tcp HET Early adult 0.00
embryonic growth retardation C2cd3em1(IMPC)Tcp HOM E9.5 0.00
decreased lymphocyte cell number C2cd3em1(IMPC)Tcp HET Early adult 4.60×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

39 Images

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Eye Morphology

Images Ophthalmoscopy

101 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

6 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Ventricular septal defect, Cryptorchidism, Postaxial hand ... OMIM:615948
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Ventricular septal defect, Bilateral cryptorchidism, Posta... ORPHA:434179

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
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder 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
Syndactyly, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphology,... ORPHA:294975
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... ORPHA:65759
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Anemia OMIM:238700
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Polydactyly, Talipes equinovarus OMIM:613885
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... OMIM:614815
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... OMIM:615996
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... OMIM:193670
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Amed Syndrome, Digenic
Acute myeloid leukemia, Hypoplasia of the uterus, Leukopenia, Anemia, Attention deficit hyperacti... OMIM:619151
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Polydactyly, Hydrocephalus OMIM:602501
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Bardet-Biedl Syndrome 4
Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... OMIM:169400
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... OMIM:615994
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Paten... OMIM:618142
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... OMIM:607131
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodac... ORPHA:397590
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Anemia, Neutropenia OMIM:604250
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor... ORPHA:90652
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... OMIM:619562
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... OMIM:277170
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Cryptorchidism, Short long bone, Brachydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Meckel Syndrome 14
Occipital encephalocele, Bowing of the long bones, Syndactyly, Postaxial polydactyly, Postaxial h... OMIM:619879
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... OMIM:619721
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Postaxial polydactyly, Polyhydramnios, Hydrocephalus, Preaxial pol... OMIM:616546
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Congenital Sialidosis Type 2
Edema, Hydrocephalus, Abnormal heart morphology, Polydactyly, Umbilical hernia, Ascites ORPHA:93400
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Polydactyly, Atrial s... OMIM:618950
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... OMIM:607323
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Polydactyly, Hypoplastic ischia OMIM:616910
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele OMIM:614424
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Autoimmune thrombocytopenia, Abnormal T cell morpholo... ORPHA:760
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:603387
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... OMIM:619142
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... OMIM:615503
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydroc... OMIM:614576
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... OMIM:617895
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism, Atrioventricular canal de... OMIM:613792
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:169160
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Rhombencephalosynapsis
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... ORPHA:59315
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopeni... OMIM:602450
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, Squar... OMIM:616300
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci... OMIM:146255
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... OMIM:600145
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ... ORPHA:8
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hip dysplasia, Polydactyly, Abnormal heart morphology ORPHA:531151
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... ORPHA:404440
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di... OMIM:617914
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Joubert Syndrome 23
Polydactyly OMIM:616490
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... OMIM:603671
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot... OMIM:617575
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Joubert Syndrome 27
Polydactyly OMIM:617120
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... ORPHA:2754
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
Orofaciodigital Syndrome I
Syndactyly, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Short 2nd toe, Polydactyl... OMIM:311200
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Hematuria, Acute kidney injury, Thrombocytopenia ORPHA:91547
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor ... ORPHA:276
Pgm3-Cdg
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... ORPHA:443811
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Meckel Syndrome, Type 1
Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of finger, Postaxial... OMIM:249000
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, P... OMIM:300960
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia ORPHA:54251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur... ORPHA:90793
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Bilateral cryptorchidism, Hypoplastic iliac wing... OMIM:180849
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp... OMIM:617053
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Oligohydramnios OMIM:615824
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:168558
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... OMIM:302960
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Hydronephrosis,... ORPHA:2237
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Umbilical hernia ORPHA:77301
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:1930
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... OMIM:614976
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Polyhydramnios, Cryptorchidism, Abnormal heart morphology, Deep ... OMIM:247200
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Orofaciodigital Syndrome V
Sandal gap, Ventricular septal defect, Postaxial polydactyly, Unilateral cryptorchidism, Postaxia... OMIM:174300
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:36238
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... ORPHA:404448
Joubert Syndrome 37
Cryptorchidism, Decreased testicular size, Postaxial polydactyly OMIM:619185
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Pica,... OMIM:614527
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... ORPHA:2886
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... OMIM:614083
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology ORPHA:314655
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas... OMIM:612541
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia ORPHA:293173
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip dislocation, Sho... OMIM:300968
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia, Hepatomegaly ORPHA:829
Meckel Syndrome 12
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia OMIM:616258
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra... ORPHA:672
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Cerebrooculonasal Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly OMIM:605627
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Cryptorchidism, Patent ... ORPHA:464306
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid aortic valve, Pa... OMIM:610168
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa... OMIM:616580
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Gl... ORPHA:3261
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ... OMIM:617925
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Patent ductus arteriosus, Hyd... OMIM:613610
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Cryptorchidism, P... OMIM:312870
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Broad hallux, Sandal gap, Tapered finger, Cryptorchidism, Small hand, Genu ... OMIM:615873
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Stromme Syndrome
Hydrocephalus, Stillbirth, Preaxial polydactyly OMIM:243605
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Ventricular septal defect, Cryptorchidism, Postaxial hand ... OMIM:615948
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... OMIM:619534
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly OMIM:612852
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, Increase... ORPHA:352665
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Abnormal mitochondrial shape, Patent ductus arteriosus, Polydactyly, ... ORPHA:17
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... OMIM:137920
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Tapered finger, Ab... ORPHA:268261
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... OMIM:601186
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Thrombocytopenia, Leukocytosis, Horseshoe kidney, Hepatosplen... OMIM:274000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... ORPHA:353277
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Patent ductus arteriosus, Cone... OMIM:617088
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... OMIM:619297
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Polydactyly ORPHA:769
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Whim Syndrome
Cervix cancer, Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Stage 5 chronic kidney disease,... OMIM:249100
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Degcags Syndrome
Syndactyly, Toe syndactyly, Ventricular septal defect, Polyhydramnios, Short thumb, Preaxial hand... OMIM:619488
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Cryptorchidism OMIM:248340
Neurocardiofaciodigital Syndrome
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... OMIM:619869
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... OMIM:618280
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Choanal Atresia
Polydactyly ORPHA:137914
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Khan-Khan-Katsanis Syndrome
Clinodactyly, Patent foramen ovale, Patent ductus arteriosus after premature birth, Postaxial pol... OMIM:618460
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, ... OMIM:618419
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Renal angiomyolipoma, Elevated urin... OMIM:260920
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Legius Syndrome
Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ... ORPHA:137605
Faciocardiomelic Syndrome
Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis OMIM:612731
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Hypoplastic left heart, Polydactyly, Apical muscular ventricular ... OMIM:301022
Culler-Jones Syndrome
Cryptorchidism, Postaxial polydactyly OMIM:615849
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Aggressive behavior, Ectopic kidney, Cryptorchidism, Renal hypoplasia, ... OMIM:135900
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Abnormal digit morphology, Decreased testicular size ORPHA:95494
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnorma... OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia OMIM:130050
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis OMIM:236680
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Norrie Disease
Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Uterine ruptur... ORPHA:649
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Ventricular septal defect, Bilateral cryptorchidism, Posta... ORPHA:434179
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ... OMIM:601803

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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