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Gene: Ywhaz MGI:109484

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Gene Summary

Name:
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide
Synonyms:
14-3-3 zeta,  1110013I11Rik

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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
short tibia Ywhaztm1b(EUCOMM)Hmgu HET Early adult 6.13×10-05
preweaning lethality, incomplete penetrance Ywhaztm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal sinus arrhythmia Ywhaztm1b(EUCOMM)Hmgu HET   Early adult 2.58×10-06
increased lymphocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 7.91×10-07
enlarged lymph nodes Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal retina morphology Ywhaztm1b(EUCOMM)Hmgu HET Early adult 1.17×10-06
edema Ywhaztm1b(EUCOMM)Hmgu HOM E15.5 0.00
abnormal skin morphology Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
edema Ywhaztm1b(EUCOMM)Hmgu HET E15.5 0.00
increased leukocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 4.01×10-07

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 66.67% (2 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 66.67% (2 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (2 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 66.67% (2 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 66.67% (2 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 66.67% (2 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 66.67% (2 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

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Embryo LacZ

LacZ images wholemount

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

19 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Human diseases caused by Ywhaz mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Enlarged tonsils, Delayed femor... ORPHA:168621
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis of co... OMIM:300067
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis of corpus callosum,... OMIM:611603
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
LΓ©ri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Intraut... OMIM:615411
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Ataxia, Motor stereo... OMIM:618709
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Cognitive impairment, Attentio... ORPHA:300573
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter ... OMIM:604213
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Maternal Hyperthermia-Induced Birth Defects
Short stature, Abnormality of neuronal migration, Intrauterine growth retardation, Cognitive impa... ORPHA:2216
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr... OMIM:604317
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Lymphatic Malformation 3
Lymphedema OMIM:613480
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,... ORPHA:90064
White Sponge Nevus 2
Edema OMIM:615785
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia, Cognitive impairment ORPHA:1314
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Exaggerated... ORPHA:309246
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Glutathionuria
Dysdiadochokinesis, Tremor, Gray matter heterotopia, Action tremor, Agenesis of corpus callosum OMIM:231950
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Lymphatic Malformation 10
Lymphedema OMIM:619369
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Orofaciodigital Syndrome Ix
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Growth delay, Short stature, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Vasculitis, Abno... OMIM:308240
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Simplified gyral pattern, Intrauterine growth retardation, Periventricular heterot... OMIM:616171
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegaly, Spleno... OMIM:209950
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Motor stereotypy OMIM:620065
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Short ribs, Short humerus, ... OMIM:607143
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, Dysphagia, 4-layered lissencephaly, Agenes... ORPHA:89844
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:1980
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... ORPHA:356961
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukoc... ORPHA:514
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Patellar overgrowth, Papilledema, Hepatosplenomegaly, Eosi... OMIM:607115
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt... ORPHA:3226
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Intellectual Developmental Disorder, X-Linked 12
Depression, Tremor, Gait disturbance, Short stature, Abnormality of neuronal migration OMIM:300957
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Memory impairment, Tremor, Intrauterine growth retardation, Periventr... OMIM:619737
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis... OMIM:612840
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia, Cognitive impairment OMIM:617008
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... ORPHA:101030
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Truncal ataxia, Short stature, Unsteady gait, Simplified gyral pattern, Perive... OMIM:618273
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Arrhythm... ORPHA:2307
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... OMIM:263520
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Finger clinodactyly, Cone-shaped epiphyses of the pha... ORPHA:2751
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Dysphagia, Opisthotonus, Agenesis of corpus callosum OMIM:207950
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Hypoten... ORPHA:79456
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Gray matter heterotopia, Impulsivity, Ataxia, Dysphagia, Agenesis of corp... OMIM:619312
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Interhypothalamic adhesion, Agenesis of corpus callosum, Attention deficit hyperacti... OMIM:618929
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, P... ORPHA:98850
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... OMIM:608940
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Irritability, Short stature, Colpocephaly, Ataxia, Intrauterine growth retardation, Self-injuriou... OMIM:619833
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Pachygyria, Agenesis of corpus callosum, Intrauterine growth retardation, Periventricular... ORPHA:255138
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Primary Myelofibrosis
Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Portal hyperte... ORPHA:824
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Short attention span, Exaggerated startle response, Short stature OMIM:617864
Omenn Syndrome
Abnormal metaphysis morphology, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocyt... ORPHA:39041
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Abnormality of neuronal migration ORPHA:2204
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Abnormality of neuronal migration, Pachygyria OMIM:608840
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Brain Small Vessel Disease 2
Growth delay, Polymicrogyria, Subcortical heterotopia OMIM:614483
Tibial Hemimelia
Absent tibia OMIM:275220
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Difficulty walking, Gray matter heterotopia, Pachygyria ORPHA:370980
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski... OMIM:617718
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Eosinophilia ORPHA:139402
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Cognitive impairment, Inappropriate laughter, Ataxia, Agenesis of corpus call... OMIM:618476
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Recurrent hand flapping, Self-biting OMIM:300624
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Thanatophoric Dysplasia Type 2
Short stature, Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Mesomelic l... OMIM:603671
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormality of neuronal migration, Disproportionate short-limb s... ORPHA:2772
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Growth delay, Abnormality of neuronal migration, Seve... ORPHA:35107
Sickle Cell Disease
Hypertension, Splenic infarction, Leukocytosis, Retinopathy, Target cells, Splenomegaly, Increase... OMIM:603903
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Ataxia, Gray matter heterotopia OMIM:617201
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Dysphagia, Partial agenesis of t... OMIM:619775
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus... ORPHA:899
Tay-Sachs Disease
Inability to walk, Memory impairment, Depression, Tremor, Short attention span, Exaggerated start... ORPHA:845
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Exaggerated startle response, Pachygyria, Agenesis... OMIM:253800
16P13.11 Microdeletion Syndrome
Compulsive behaviors, Short stature, Abnormality of neuronal migration, Agenesis of corpus callos... ORPHA:261236
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Acrofacial Dysostosis, RodrΓ­guez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:370959
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Dystonia, Lateral ventricle dilatation OMIM:614105
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Tremor, Gait disturbance, Short stature, Growth delay, Abnormality of neu... ORPHA:2754
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph... OMIM:617099
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut... ORPHA:3261
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hyperactivity, Exaggerated startle response OMIM:617281
Galloway-Mowat Syndrome
Cognitive impairment, Short stature, Abnormality of neuronal migration, Pachygyria, Intrauterine ... ORPHA:2065
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis... OMIM:615219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Neonatal Adrenoleukodystrophy
Short stature, Abnormality of neuronal migration ORPHA:44
Vici Syndrome
Short stature, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, L... ORPHA:729
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Acalvaria
Abnormality of neuronal migration ORPHA:945
Leukodystrophy, Hypomyelinating, 13
Irritability, Ataxia, Exaggerated startle response OMIM:616881
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Short stature, Ataxia, Agenesis of corpus ca... ORPHA:314679
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Polyphagia, Broad-based gait ORPHA:397941
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Kikuchi-Fujimoto Disease
Myocarditis, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Vasculitis, ... ORPHA:50918
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Short stature, Dysphagia, Lateral ventricle dilatation OMIM:618367
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Tafro Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:457077
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Joubert Syndrome
Polymicrogyria, Tremor, Gait disturbance, Abnormality of neuronal migration, Ataxia ORPHA:475
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia, Pedal edema ORPHA:90186
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Thanatophoric Dysplasia
Intrauterine growth retardation, Gray matter heterotopia, Disproportionate short-limb short stature ORPHA:2655
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia, Short stature OMIM:618870
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h... OMIM:236680
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Difficulty walking, Gray matter heterotopia ORPHA:531151
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:157
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Dysgyria, Tremor, Intrauterine growth retardation, Exaggerated startle response OMIM:620327
Wolcott-Rallison Syndrome
Lymphocytosis, Metaphyseal dysplasia, Iron deficiency anemia, Neutropenia ORPHA:1667
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Abnormality of neuronal migration, Short stature ORPHA:2518
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Gait ataxia, Abnormality of neuronal migration, Colpocep... ORPHA:75857
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Dysphagia, Exaggerated startle response, Cognitive impairment OMIM:617527
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
3C Syndrome
Short stature, Abnormality of neuronal migration, Postnatal growth retardation ORPHA:7
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum OMIM:608836
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response, Simplified gyral pattern, Intrauterine growth... OMIM:615574
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Polymicrogyria, Severe short stature, Simplified gyral pattern, Pachygyr... ORPHA:468631
Bohring-Opitz Syndrome
Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Short stature, Agenesis of corpus ... OMIM:605039
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Neonatal death, Gray matter heterotopia, Disproportionate shor... OMIM:187600
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Opisthotonus, Pach... ORPHA:2671
Coffin-Lowry Syndrome
Short stature, Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance ORPHA:192
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:228308
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Partial agenesis of the corpus callosum, Short stature,... OMIM:305450
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly, Dysphagia ORPHA:261250
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co... OMIM:618820
Alg11-Cdg
Ataxia, Opisthotonus, Gray matter heterotopia ORPHA:280071
Periventricular Nodular Heterotopia 9
Broad-based gait, Polymicrogyria, Gray matter heterotopia, Compulsive behaviors, Attention defici... OMIM:618918
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Dysphagia, Gray matter heterotopia, Fatigable weakness of neck muscles ORPHA:26791
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Unsteady gait, Agenesis of corpus callosum OMIM:618733
Galloway-Mowat Syndrome 1
Short stature, Abnormality of neuronal migration, Dystonia, Ataxia, Pachygyria, Intrauterine grow... OMIM:251300
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Short stature, Dystonia, Neonatal death, Pachygyria OMIM:620024
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormality of neuronal migration, Motor stereotypy, Attention deficit hyperact... ORPHA:464311
Van Maldergem Syndrome 1
Gray matter heterotopia, Growth delay, Simplified gyral pattern, Pachygyria, Subcortical band het... OMIM:601390
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... OMIM:301074
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Koolen-De Vries Syndrome
Hyperactivity, Gray matter heterotopia, Impulsivity, Short stature, Intrauterine growth retardation OMIM:610443
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Abnormal cortical gyration, Severe postnatal growth r... OMIM:210710
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Abnormal cortical gyration, Dystonia, Exaggerated startl... ORPHA:521426
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Tremor, Ataxia, Gait disturbance ORPHA:1454
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Aicardi Syndrome
Postnatal growth retardation, Polymicrogyria, Gray matter heterotopia, Pachygyria, Lateral ventri... OMIM:304050
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Neonatal death, Gray matter heterotopia OMIM:614887
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Retinal coloboma, Hand monodactyly, Bilateral talipes equin... OMIM:214800
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia OMIM:617563
Vici Syndrome
Postnatal growth retardation, Dysphagia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysphagia, Bi... ORPHA:98889
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Exaggerated startle response OMIM:608800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Mental deterioration... ORPHA:647
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Gray matter heterotopia ORPHA:1860
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Loss of ambulation, Unsteady gait, Dysphagia OMIM:214100
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Gray matter heterotopia, Short stature, Agene... OMIM:311200
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Miller-Dieker Lissencephaly Syndrome
Agyria, Gray matter heterotopia, Pachygyria, Intrauterine growth retardation, Lissencephaly OMIM:247200
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Retinal dystrophy, Broad toe, Triphal... OMIM:218330
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia, Growt... OMIM:615546
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353277
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Gray matter heterotopia, Growth delay, Agenesis of corpus callosum, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Gray matter heterotopia, Growth delay, Agenesis of corpus callosum, Bruxism ORPHA:352665
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Holoprosencephaly
Abnormality of neuronal migration, Dystonia, Cognitive impairment ORPHA:2162
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Bruxism, Gray matter heterotopia ORPHA:453499
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Holoprosencephaly 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:619895
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Exaggerated startle response ORPHA:79255
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Short stature, Gray matter heterotopia OMIM:620654
Smith-Lemli-Opitz Syndrome
Hyperactivity, Short stature, Growth delay, Colpocephaly, Partial agenesis of the corpus callosum... OMIM:270400
Arima Syndrome
Polydipsia, Ataxia, Gray matter heterotopia, Growth delay OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Systolic heart murmur, Micrognathia, Thrombocytopenia, Leukopenia, Splenom... OMIM:619991
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Short stature, Growth delay, Dysphagia, Motor stereotypy, Attention... OMIM:619522
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Fontaine Progeroid Syndrome
Gray matter heterotopia, Short stature, Neonatal death, Intrauterine growth retardation, Perivent... OMIM:612289
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Stereotypical hand wringing, Exaggerated startle response, S... ORPHA:438213
Genitopatellar Syndrome
Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the co... OMIM:615948
Pagod Syndrome
Short stature, Abnormality of neuronal migration ORPHA:991
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum ORPHA:434179
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Broad-based gait, Polymicrogyria, Short stature, Dysphagia, Agenesis of corpus... ORPHA:261537
Mowat-Wilson Syndrome
Inability to walk, Broad-based gait, Polymicrogyria, Short stature, Growth delay, Ataxia, Dysphag... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Broad-based gait, Polymicrogyria, Short stature, Dysphagia, Agenesis of corpus... ORPHA:261552
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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 Ywhaz

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 Ywhaz.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Ywhaztm1b(EUCOMM)Hmgu PMC8163790
Reducing 14-3-3ΞΆ expression influences adipocyte maturity and impairs function. American journal of physiology. Endocrinology and metabolism (May 2020) Ywhaztm1c(EUCOMM)Hmgu 32369418

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
Ywhaztm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ywhaztm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ywhaztm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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