Gene Summary

Name:
frizzled class receptor 3
Synonyms:
Fz3,  D930050A07Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Fzd3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
impaired glucose tolerance Fzd3tm1b(EUCOMM)Hmgu HET Early adult 3.82×10-08
increased total body fat amount Fzd3tm1b(EUCOMM)Hmgu HET Early adult 2.30×10-05
decreased bone mineral content Fzd3tm1b(EUCOMM)Hmgu HET Early adult 1.19×10-05
decreased grip strength Fzd3tm1b(EUCOMM)Hmgu HET Early adult 2.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

MicroCT E18.5

Embryo reconstruction

5 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fzd3 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 Fzd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Clinodactyly, Dysplastic corpus callosum, Abnormal cerebral white matter morpho... ORPHA:500166
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Depression, Lateral ventricle dilatation OMIM:615889
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Camptodactyly of finger, Hypopl... OMIM:600638
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Respiratory distress, Agenesis of corpus callosum, Primary micr... ORPHA:171703
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum OMIM:613162
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Syringomyelia, Spin... OMIM:207950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Lateral ventricle dilatation, Frontal lobe dementia, Euphoria, Dementia OMIM:221770
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Microcephaly, Acrocyanosis, Tapered finger OMIM:302000
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Respiratory distress, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:619466
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Dilated third ventricle OMIM:619725
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Small basal gang... ORPHA:300570
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Polymicrogyria Due To Tubb2B Mutation
Attention deficit hyperactivity disorder, Cognitive impairment, Lateral ventricle dilatation, Age... ORPHA:300573
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Polydactyly OMIM:616490
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Cyanotic episode, Apnea, Death in infancy OMIM:610992
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Perching Syndrome
Respiratory distress, Camptodactyly, Cyanosis OMIM:617055
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Clinodactyly of the 5th finger, Proximal placement of thumb ORPHA:502430
Cach Syndrome
Lateral ventricle dilatation, Irritability, T2 hypointense thalamus, Cognitive impairment, Progre... ORPHA:135
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Genu valgum, Cyanosis,... ORPHA:488627
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Mental deterioration, Memory impairment, Depression ORPHA:314404
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia... ORPHA:284417
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Dilated third ventricle, La... ORPHA:544488
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... OMIM:618325
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Attention deficit hyperactivity disorder, Dilated third ventricle, Hydrocephalus ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 56
Attention deficit hyperactivity disorder, Short attention span, Lateral ventricle dilatation, Bra... OMIM:617854
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... ORPHA:2185
Central Neurocytoma
Abnormal lateral ventricle morphology, Depression, Hydrocephalus ORPHA:73256
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Hypermobility of toe jo... ORPHA:488635
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle, Irritability OMIM:615574
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Short attention span, Attention deficit hy... OMIM:619575
Glutamine Deficiency, Congenital
Erythema, Micromelia, Lateral ventricle dilatation, Apnea, Hypoplasia of the corpus callosum, Neo... OMIM:610015
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Dandy-Walk... ORPHA:397715
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation, Agenesis... ORPHA:79243
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Central apnea, Cyanosis ORPHA:71277
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autosomal Recessive Spastic Paraplegia Type 66
Talipes equinovarus, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Progressive language deterioration, Memory impairment, Lateral ventricle dilatation, Frontotempor... OMIM:607485
Lissencephaly 7 With Cerebellar Hypoplasia
Hand clenching, Death in infancy, Agenesis of corpus callosum, Neonatal death, Microcephaly, Agyr... OMIM:616342
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment, Irritability ORPHA:2148
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:464738
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... ORPHA:70587
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Patellar hypoplasia, Apnea, Cyanosis, Microcephaly, Tachypn... ORPHA:2257
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Overla... OMIM:618291
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Thumb contracture, Absent septum pellucidum, Agenesis of corpus c... OMIM:307000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo... OMIM:616900
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Hypothalamic atrophy, Memory impairment, Lateral ventricle dilatation, Shor... ORPHA:2822
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Ventriculomegaly, Apnea, Hypoplasia of the corpus callosum, Dysplasti... ORPHA:2524
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callo... OMIM:614120
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebral atrophy, Death in childhood, Hypoplasia of the corpus callosum, Death ... OMIM:616034
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Cyanosis, Microcephaly, Frontal cortical atrophy ORPHA:621
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrocephalus, Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation OMIM:620371
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Short attention span, Agenesis of corpus callosum, Diminished abili... OMIM:612863
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Partial agenesis of t... OMIM:304050
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Tetrasomy 5P
Respiratory distress, Overlapping toe, Cyanosis, Pericallosal lipoma, Talipes equinovarus, Short ... ORPHA:3309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Death in childhood, Dysplastic corpus callosum, Microcephaly, Camptodactyly, Rocker bottom foot OMIM:604273
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Cyanosis, Death in infancy, Microcephaly, Partial anomalous pulmonary venous ret... OMIM:617478
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Joint contracture of the 5th finger, Hypoplasia of the corpus callosum,... OMIM:614407
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Microcep... OMIM:618010
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Even-Plus Syndrome
Dysplastic corpus callosum, Dysplasia of the femoral head, Agenesis of corpus callosum OMIM:616854
Neuralgic Amyotrophy
Acrocyanosis, Syndactyly ORPHA:2901
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
High Altitude Pulmonary Edema
Pulmonary edema, Tachypnea, Hypoxemia, Cyanosis ORPHA:330012
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Weiss-Kruszka Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly, C... OMIM:618619
Autosomal Recessive Cutis Laxa Type 2A
Progeroid facial appearance, Secondary microcephaly, Dilated fourth ventricle, Excessive wrinkled... ORPHA:357058
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Death in childhood, Death in infancy OMIM:619423
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Low frustration tolerance ORPHA:457279
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal basal ganglia morphology, Cyanosis, D... ORPHA:391428
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Agenesis of corpu... OMIM:620352
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Secondary microcephaly, Clinodactyly of the 5th finger, Hypoplasia of the corpus callosum, Agenes... OMIM:620113
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callo... OMIM:619179
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia ORPHA:91359
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation ORPHA:572798
Distal Deletion 10Q
Attention deficit hyperactivity disorder, Lateral ventricle dilatation ORPHA:96148
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Ventriculomegaly, Apnea, Cyanosis, Microcephaly, Thin corpus callosum OMIM:619580
Laryngeal Abductor Paralysis
Cyanosis, Talipes equinovarus, Microcephaly OMIM:150260
Breath-Holding Spells
Cyanosis OMIM:607578
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Short attention span, Lateral ventricle dilatation OMIM:619229
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Erythema, Cerebral atrophy, Intracerebral periventricular calcifications, Ba... OMIM:225750
Oculoskeletodental Syndrome
Short 5th finger, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Focal white matter l... ORPHA:557003
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephal... OMIM:616975
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Death in childhood, Agenesis of ... OMIM:618651
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Irritability OMIM:619487
Encephalopathy, Ethylmalonic
Focal T2 hyperintense basal ganglia lesion, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death OMIM:618810
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydrocephalus, Thin c... OMIM:619833
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Histiocytoid Cardiomyopathy
Cyanosis, Agenesis of corpus callosum, Pulmonary edema, Tachypnea, Hydrocephalus ORPHA:137675
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum... OMIM:617281
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous finger syndactyly, Mi... ORPHA:896
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar... OMIM:618569
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Dandy... ORPHA:434179
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Absent septum pellucidum, Agenesis of corpus cal... OMIM:609053
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Cerebral atrophy, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cy... OMIM:618426
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:464453
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation OMIM:277590
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Polydactyly ORPHA:137914
Gabriele-De Vries Syndrome
Attention deficit hyperactivity disorder, Lateral ventricle dilatation OMIM:617557
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Attention deficit hyperactivity disorder, ... ORPHA:177907
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Paresis of extensor muscles of the big toe, Abnormal spinal cord morphology ORPHA:99947
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Meckel Syndrome 14
Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Cyanosis, Bowing of th... OMIM:619879
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Short finger, Microcephaly, Acrocyanosis, Tapered finger ORPHA:1867
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Talipes equinov... OMIM:617260
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ... OMIM:615873
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Cyanosis, 2-3 toe syndactyly, Microcephaly, Clubbing of fingers ORPHA:3304
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Ischemic stroke, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Clubbing,... ORPHA:2038
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:98914
Spondyloenchondrodysplasia
Pneumonia, Short distal phalanx of finger, Ventriculomegaly, Abnormal lateral ventricle morpholog... ORPHA:1855
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Tarp Syndrome
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... ORPHA:2886
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Irritability OMIM:618367
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Cerebrofacioarticular Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corp... ORPHA:314679
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Flared metaphysis, Aplasia/Hypoplasia of the middle ... OMIM:151050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Long hallu... ORPHA:261552
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Apnea, Cyanosis, Hypoplasia of the corpus callosum, Abnormal diffusion we... OMIM:620423
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Clubbing of fingers ORPHA:335
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Clubbing, Hypoxemia ORPHA:747
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis OMIM:250800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Overlapping toe, Camptodactyly ORPHA:363444
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Cyanosis, Sudden episodic apnea ORPHA:159
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Hydrocephalus OMIM:261740
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis ORPHA:3426
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Choreoacanthocytosis
Mental deterioration, Depression, Lateral ventricle dilatation, Short attention span, Emotional l... ORPHA:2388
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Focal T2 hyperintense basal ganglia lesion, Apnea, Cyanosis, Death in infanc... OMIM:252010
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Lateral ventricle dilatation, Death in childhood, Hypoplasia of the corpus c... OMIM:210710
Ethylene Glycol Poisoning
Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea, Cerebral edema ORPHA:31826
Myasthenic Syndrome, Congenital, 21, Presynaptic
Hyperintensity of cerebral white matter on MRI, Apnea, Cyanosis OMIM:617239
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Abnormal spinal cord morphology ORPHA:494
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasia, Perisylv... ORPHA:268943
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura ORPHA:90051
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Pachygyria, Death in infancy, Agenesis of corpus callosum, Talipes equinovarus, C... OMIM:614866
Solitary Bone Cyst
Abnormal tibia morphology, Lytic defects of the radius, Abnormality of the medullary cavity of th... ORPHA:83468
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Proximal placement of thumb, Hypoplasia of the corpus callosum ORPHA:261250
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Clubbing of toes, Arachnodactyly, Microcephaly, Colpocephaly, Metaphyseal widenin... OMIM:620083
Esophageal Atresia
Bronchitis, Clinodactyly, Respiratory distress, Cyanosis, Episodic respiratory distress, Recurren... ORPHA:1199
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Clubbing ORPHA:439
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Tachypnea, Recurrent respiratory infecti... ORPHA:99106
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Respiratory distress, Myelomeningocele, Cyanosis, Bilate... OMIM:306955
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus OMIM:309801
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:301043
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Cutis marmorata, Purpura, Acrocy... ORPHA:183
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Angiokeratoma, Abnormal spinal cord morphology ORPHA:53721
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hypoplasia of the corpus callosum, Holoprosencephaly... OMIM:270400
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Myelitis, Abnormal basal ganglia morphology, Abnormal periven... ORPHA:83597
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Spinal arteriovenous malfor... OMIM:187300
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Clinodactyly, Postaxial polydactyly, Microcephaly, Colpocephaly, Tethered cord OMIM:618460
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dil... ORPHA:500150
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... ORPHA:3384
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Ischemic s... OMIM:610655
Poems Syndrome
Metaphyseal sclerosis, Pleural effusion, Plethora, Acrocyanosis, Clubbing of fingers ORPHA:2905
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:607872
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Pitt-Hopkins Syndrome
Small cerebral cortex, Small hand, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2896
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Short thumb, Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, B... ORPHA:477993
Zttk Syndrome
Small hand, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dy... OMIM:617140
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Bro... ORPHA:980
Aicardi-Goutières Syndrome
Degeneration of the striatum, Ventriculomegaly, Cerebral calcification, Cutis marmorata, Hypoplas... ORPHA:51
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Clinodactyly, Polymicrogyria, Hypoplasia of the corpus callo... ORPHA:75857
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology, Cerebral... ORPHA:139399
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
X-Linked Cerebral Adrenoleukodystrophy
Abnormal periventricular white matter morphology, Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Genitopatellar Syndrome
Patellar aplasia, Agenesis of corpus callosum, Talipes equinovarus, Radioulnar synostosis, Colpoc... OMIM:606170
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation, Anterior pituitary hypoplasia OMIM:619534
Criss-Cross Heart
Cyanosis ORPHA:1461
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Abnormal cerebral cortex morphology, Abnormal basal ganglia morphology, Respiratory tr... ORPHA:68
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Aortopulmonary window ORPHA:2299
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad thumb, Broa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad thumb, Broa... ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Superficial Siderosis
Abnormal corpus callosum morphology, Dysgyria, Atrophy of the spinal cord, Abnormal spinal cord m... ORPHA:247245
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Flexion contracture of finger, Abnormal spinal cord morphology ORPHA:88628
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cutis marmorata, Ischemic stroke, Vasculitis in the skin, Recurrent ... ORPHA:48435
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Hallux valgus, Synostosis of the proximal phalanx of the thumb with t... OMIM:300967
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Dermatomyositis
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ... ORPHA:221
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... OMIM:613406
Myasthenia Gravis
Acrocyanosis ORPHA:589
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infecti... ORPHA:293987
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Aortopulmonary window, Clubbing, Hypoxemia ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Respiratory distress, Cyanosis, Apneic episode... ORPHA:99125
Coffin-Lowry Syndrome
Ventriculomegaly, Hyperextensibility of the finger joints, Cutis marmorata, Microcephaly, Drumsti... OMIM:303600
Tetrasomy 9P
Small hand, Polymicrogyria, Umbilical hernia, Talipes equinovarus, Small toe, Jaundice, Abnormal ... ORPHA:3310
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Cyanosis, Prominent superficial blood ... ORPHA:740
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Hypoplasia of the corpus callosum, Dysplastic corpus cal... ORPHA:466791
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Cyanosis, Abnormal calcification of the carpal bone... ORPHA:51608
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Umbilical hernia, Ecchymosis, Talipes equinovarus, P... ORPHA:287
Primary Sjögren Syndrome
Usual interstitial pneumonia, Bronchitis, Cutis marmorata, Lymphocytic interstitial pneumonia, Ab... ORPHA:289390
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia, Apnea, Arachnodactyly, Acrocyanosis ORPHA:285
Mosaic Trisomy 20
Abnormal spinal cord morphology, Clinodactyly ORPHA:1724

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 Fzd3

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 Fzd3.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Celsr3 and Fzd3 Organize a Pioneer Neuron Scaffold to Steer Growing Thalamocortical Axons. Cerebral cortex (New York, N.Y. : 1991) (May 2016) Fzd3tm1c(EUCOMM)Agof Fzd3tm1d(EUCOMM)Agof PMC4898681
Celsr3 is required in motor neurons to steer their axons in the hindlimb. Nature neuroscience (August 2014) Fzd3tm1a(EUCOMM)Agof Fzd3tm1c(EUCOMM)Agof Fzd3tm1d(EUCOMM)Agof 25108913
A dual role for planar cell polarity genes in ciliated cells. Proceedings of the National Academy of Sciences of the United States of America (July 2014) Fzd3tm1c(EUCOMM)Agof Fzd3tm1d(EUCOMM)Agof PMC4121795
Genetic evidence that Celsr3 and Celsr2, together with Fzd3, regulate forebrain wiring in a Vangl-independent manner. Proceedings of the National Academy of Sciences of the United States of America (July 2014) Fzd3tm1a(EUCOMM)Agof Fzd3tm1c(EUCOMM)Agof Fzd3tm1d(EUCOMM)Agof PMC4115502

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
Fzd3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Fzd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fzd3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter