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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

Order Alleles

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
preweaning lethality, incomplete penetrance Ywhaztm1b(EUCOMM)Hmgu HOM   Early adult 0.00
short tibia Ywhaztm1b(EUCOMM)Hmgu HET Early adult 6.13×10-05
increased lymphocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 7.90×10-07
abnormal sinus arrhythmia Ywhaztm1b(EUCOMM)Hmgu HET   Early adult 2.58×10-06
enlarged lymph nodes Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal retina morphology Ywhaztm1b(EUCOMM)Hmgu HET Early adult 8.03×10-06
increased leukocyte cell number Ywhaztm1b(EUCOMM)Hmgu HET Early adult 3.99×10-07
edema Ywhaztm1b(EUCOMM)Hmgu HET E15.5 0.00
abnormal skin morphology Ywhaztm1b(EUCOMM)Hmgu HET Early adult 0.00
edema Ywhaztm1b(EUCOMM)Hmgu HOM E15.5 0.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Eye Morphology

Images Ophthalmoscopy

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Embryo LacZ

LacZ images wholemount

16 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Histopathology

Images

2 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
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... ORPHA:168621
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesi... OMIM:300067
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... OMIM:611603
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... OMIM:615411
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Chudley-Mccullough Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corp... OMIM:604213
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral pattern, Abnormalit... OMIM:604317
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Lymphatic Malformation 3
Lymphedema OMIM:613480
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
White Sponge Nevus 2
Edema OMIM:615785
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration, Cognitive impa... ORPHA:2216
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Tr... ORPHA:3077
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... OMIM:600348
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Lymphatic Malformation 10
Lymphedema OMIM:619369
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Abnormality of neuronal m... ORPHA:163681
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Autosomal Recessive Primary Microcephaly
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:620065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified g... OMIM:616171
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Intrau... ORPHA:89844
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,... OMIM:607143
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymph... OMIM:209950
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:1980
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... ORPHA:356961
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphadenopathy, Lymphocytosis, Hemophag... OMIM:308240
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... OMIM:608940
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, ... ORPHA:514
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Patellar overgrowth, Lymphadenopathy, Hepatosplenomegaly... OMIM:607115
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Intracranial hemorrhage, ... ORPHA:3226
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Intellectual Developmental Disorder, X-Linked 12
Short stature, Tremor, Abnormality of neuronal migration, Depression, Gait disturbance OMIM:300957
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Dysplastic corpus callosum, Memory impairment, Periventricular nodular heterotopia, Intra... OMIM:619737
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph node morpholo... OMIM:612840
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Dysphagia OMIM:617008
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... ORPHA:101030
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pa... OMIM:618273
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Difficulty walking, Tip-toe gait ORPHA:370980
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... ORPHA:2307
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Short femur OMIM:620306
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:263520
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... OMIM:603671
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Chiari Malformation Type Ii
Ataxia, Opisthotonus, Gray matter heterotopia, Dysphagia, Agenesis of corpus callosum OMIM:207950
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... ORPHA:96334
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Gray matter heterotopia, Agenesis of corpus cal... OMIM:619312
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Interhypothalamic adhesion, Self-injurious behavior, At... OMIM:618929
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphadenopathy, Lymphocytosis, Hypotensi... ORPHA:79456
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope... OMIM:613179
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Ataxia, Aggressive behavior, Periventricular heterotopia, Self-injurious behavior,... OMIM:619833
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Intrauterine growth retardation, Pachygyria, Agenesis of cor... ORPHA:255138
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim... ORPHA:3035
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal metaphysis morphol... ORPHA:39041
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Abnormality of neuronal migration ORPHA:2204
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Short stature, Abnormality of neuronal migration OMIM:608840
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Short stature, Inability to walk, Irritability OMIM:617864
Brain Small Vessel Disease 2
Growth delay, Subcortical heterotopia, Polymicrogyria OMIM:614483
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... OMIM:617718
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Desmosterolosis
Severe short stature, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, ... ORPHA:35107
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Inappropriate laughter, Cognitive impairment, Difficulty wal... OMIM:618476
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Eosinophilia, Myocarditis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Self-biting, Periventricular heterotopia OMIM:300624
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Thanatophoric Dysplasia Type 2
Short stature, Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Abnormality of neuronal migration, Intrauterine growth... ORPHA:2772
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Dysphag... OMIM:619775
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia OMIM:617201
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Retinopathy, Incr... OMIM:603903
16P13.11 Microdeletion Syndrome
Short stature, Abnormality of neuronal migration, Self-injurious behavior, Compulsive behaviors, ... ORPHA:261236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Pol... OMIM:253800
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... ORPHA:845
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Dystonia, Periventricular heterotopia OMIM:614105
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... OMIM:614643
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... ORPHA:3261
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly ORPHA:370959
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Orofaciodigital Syndrome Type 6
Short stature, Ataxia, Tremor, Abnormality of neuronal migration, Growth delay, Gait disturbance,... ORPHA:2754
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... OMIM:617099
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Galloway-Mowat Syndrome
Short stature, Abnormality of neuronal migration, Cognitive impairment, Intrauterine growth retar... ORPHA:2065
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hyperactivity, Exaggerated startle response OMIM:617281
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Retinal degeneration, Early ossification of capital femoral epiphyses, Co... OMIM:208500
Neonatal Adrenoleukodystrophy
Short stature, Abnormality of neuronal migration ORPHA:44
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Short stature ORPHA:1493
Acalvaria
Abnormality of neuronal migration ORPHA:945
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Cerebrofacioarticular Syndrome
Ataxia, Short stature, Dysplastic corpus callosum, Gray matter heterotopia, Self-injurious behavi... ORPHA:314679
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... OMIM:615219
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Man1B1-Cdg
Resting tremor, Broad-based gait, Polyphagia, Periventricular heterotopia ORPHA:397941
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, Myocarditis, Thr... ORPHA:50918
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature, Irritability, Lateral ventricle dilatation, Dysphagia OMIM:618367
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Joubert Syndrome
Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance, Polymicrogyria ORPHA:475
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Meige Disease
Lymph node hypoplasia, Pedal edema, Absence of lymph node germinal center ORPHA:90186
Thanatophoric Dysplasia
Gray matter heterotopia, Disproportionate short-limb short stature, Intrauterine growth retardation ORPHA:2655
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Gray matter heterotopia, Difficulty walking ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:157
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Short stature, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response OMIM:300607
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Intrauterine growth retardation, Exaggerated startle response, Dysgyria OMIM:620327
Wolcott-Rallison Syndrome
Iron deficiency anemia, Metaphyseal dysplasia, Lymphocytosis, Neutropenia ORPHA:1667
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration ORPHA:2518
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Opisthoton... ORPHA:2671
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
3C Syndrome
Postnatal growth retardation, Short stature, Abnormality of neuronal migration ORPHA:7
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment, Dysphagia OMIM:617527
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Simplified gyral pattern, Irritability, Intrauterine growth... OMIM:615574
Bohring-Opitz Syndrome
Short stature, Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Intrauterine growth... OMIM:605039
Coffin-Lowry Syndrome
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration, Short stature ORPHA:192
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Self-inj... ORPHA:468631
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Lethal short-limbed short stature, Disproportionate shor... OMIM:187600
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:228308
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Short stature, Attention defici... OMIM:305450
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
16Q24.3 Microdeletion Syndrome
Colpocephaly, Dysphagia, Periventricular heterotopia ORPHA:261250
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivit... OMIM:618820
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity ... OMIM:618918
Alg11-Cdg
Gray matter heterotopia, Ataxia, Opisthotonus ORPHA:280071
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia OMIM:268800
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Fatigable weakness of neck muscles, Dysphagia ORPHA:26791
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Short stature, Gray matter heterotopia, Dystonia, Neonatal death, Pachygyria OMIM:620024
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Growth delay, Gray matter heterotopia, Pe... OMIM:601390
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Birth length less than 3rd percentile, Gait disturbance, Atten... ORPHA:464311
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Partial agenesis of the corpus ... OMIM:210710
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Joubert Syndrome With Hepatic Defect
Tremor, Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:1454
Aicardi Syndrome
Postnatal growth retardation, Partial agenesis of the corpus callosum, Gray matter heterotopia, L... OMIM:304050
Koolen-De Vries Syndrome
Hyperactivity, Short stature, Impulsivity, Gray matter heterotopia, Intrauterine growth retardation OMIM:610443
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Abnormal cortical gyration... ORPHA:521426
Joubert Syndrome With Oculorenal Defect
Ataxia, Abnormality of neuronal migration ORPHA:2318
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Orofaciodigital Syndrome Xvi
Inability to walk, Gray matter heterotopia, Ataxia OMIM:617563
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Vici Syndrome
Postnatal growth retardation, Gray matter heterotopia, Agenesis of corpus callosum, Dysphagia OMIM:242840
Nijmegen Breakage Syndrome
Mental deterioration, Short stature, Abnormality of neuronal migration, Attention deficit hyperac... ORPHA:647
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Exaggerated startle response OMIM:608800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Lethal short-limbed short stature ORPHA:1860
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria OMIM:214100
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Orofaciodigital Syndrome I
Short stature, Abnormal cortical gyration, Gray matter heterotopia, Hypothalamic hamartoma, Agene... OMIM:311200
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Lissencephaly, Intrauterine growth retardation, Pachygyria, Agyria OMIM:247200
Van Maldergem Syndrome 2
Growth delay, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band hete... OMIM:615546
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... OMIM:218330
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353277
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Growth delay, Gray matter heterotopia, Bruxism, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Growth delay, Gray matter heterotopia, Bruxism, Agenesis of corpus callosum ORPHA:352665
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Holoprosencephaly
Abnormality of neuronal migration, Cognitive impairment, Dystonia ORPHA:2162
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Intrauterine growth retardation, Bruxism ORPHA:453499
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Exaggerated startle response, Dystonia ORPHA:79255
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:619895
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Smith-Lemli-Opitz Syndrome
Hyperactivity, Short stature, Aggressive behavior, Periventricular heterotopia, Partial agenesis ... OMIM:270400
Arima Syndrome
Growth delay, Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly OMIM:615287
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Short stature, Growth delay, Attention deficit hyperactivity disord... OMIM:619522
Liver Disease, Severe Congenital
Micrognathia, Splenomegaly, Abnormal left ventricular function, Leukopenia, Anemia, Lymphocytosis... OMIM:619991
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Fontaine Progeroid Syndrome
Short stature, Periventricular heterotopia, Gray matter heterotopia, Neonatal death, Intrauterine... OMIM:612289
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Short stature, Dystonia, Inability to walk, Dysph... ORPHA:438213
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Xiv
Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula... OMIM:615948
Pagod Syndrome
Short stature, Abnormality of neuronal migration ORPHA:991
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Periventricular heterotopia, Inability to walk, Dysphagia, Agene... ORPHA:261537
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Short stature, Periventricular heterotopia, Inability to walk, Dysphagi... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Periventricular heterotopia, Inability to walk, Dysphagia, Agene... 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Ywhaztm1b(EUCOMM)Hmgu PMC10456929
14-3-3ζ Constrains insulin secretion by regulating mitochondrial function in pancreatic β cells. JCI insight (April 2022) Ywhaztm1c(EUCOMM)Hmgu PMC9089799
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 14-3-3ζ 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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