Gene Summary

Name:
LEM domain containing 2
Synonyms:
NET25,  Lem2

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
decreased prepulse inhibition Lemd2em1(IMPC)Bay HET Early adult 3.67×10-05
abnormal spleen morphology Lemd2em1(IMPC)Bay HET Early adult 0.00
embryonic lethality prior to tooth bud stage Lemd2em1(IMPC)Bay HOM   E12.5 0.00
preweaning lethality, incomplete penetrance Lemd2em1(IMPC)Bay HOM   Early adult 0.00
abnormal eye posterior chamber depth Lemd2em1(IMPC)Bay HET Early adult 1.07×10-05
preweaning lethality, complete penetrance Lemd2em1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Human diseases caused by Lemd2 mutations

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

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

The table below shows human diseases associated to Lemd2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Intrauterine growth retardation, Eruption failure, Ventricular septal hy... OMIM:619322

The table below shows human diseases predicted to be associated to Lemd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Lambert Syndrome
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Intrauterine ... ORPHA:1296
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Retinal vascular malformation, Cerebral... OMIM:116860
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Abnormality of the optic nerve, Intracranial hemorrhage, Abnor... ORPHA:31825
Neurocutaneous Melanocytosis
Meningocele, Dandy-Walker malformation, Abnormality of retinal pigmentation, Intracranial hemorrh... ORPHA:2481
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Intrauterine growth retardatio... OMIM:611134
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Hydrocepha... ORPHA:370959
Ophthalmoplegia, External, And Myopia
Spina bifida, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Severe Hemophilia A
Limb joint contracture, Menorrhagia, Epidural hemorrhage, Intracranial hemorrhage, Subdural hemor... ORPHA:169802
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhag... ORPHA:97339
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Limb joint contracture, Cerebellar atrop... ORPHA:356961
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Facial palsy, Cerebral ischemia, Stroke, Transient i... ORPHA:36382
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... OMIM:173470
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... ORPHA:449285
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... ORPHA:166024
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... OMIM:211960
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Leukoencephalopathy, Recurrent subcor... ORPHA:136
Coach Syndrome 2
Hypertension, Chorioretinal coloboma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydr... OMIM:619111
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Intracranial hemorrhage, Retinopathy of prematurity, Abnormal c... ORPHA:447788
Primary Angiitis Of The Central Nervous System
Multifocal cerebral white matter abnormalities, Intracranial hemorrhage, Recurrent subcortical in... ORPHA:140989
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Rod-cone dystrophy OMIM:300804
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... ORPHA:1532
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus ORPHA:945
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Hip contracture, Gingival bleeding, Subdural hemorr... ORPHA:169805
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Leukocytosis, Cardiomegaly, Anemia, Abnormal cerebral white ma... OMIM:618886
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Alg3-Cdg
Dandy-Walker malformation, Neural tube defect, Macroglossia, Hypoplasia of the pons, Abnormal cer... ORPHA:79321
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Intraventricular hemorr... ORPHA:284388
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly, Abnormal mast cell morphology ORPHA:398189
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Joubert Syndrome 22
Temporal cortical atrophy, Intrauterine growth retardation, Retinal dysplasia, Agenesis of cerebe... OMIM:615665
Joubert Syndrome 1
Optic disc pallor, Brainstem dysplasia, Occipital myelomeningocele, Dysgenesis of the cerebellar ... OMIM:213300
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Microcephaly ORPHA:1131
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Abnormal left ventricle morphol... OMIM:300845
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly ORPHA:2476
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia, Flexion contracture, Retinopathy OMIM:617562
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology, Webbed neck, Spina bifida, Low post... ORPHA:2345
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral atrophy, Leukoencephalopathy, Cerebral calcification OMIM:618360
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Bradycardia, Patent ductus arteriosus, Polymicrogyria, Cerebellar... OMIM:617397
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Bleeding with ... ORPHA:98878
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Neutropenia, Retinal degeneration,... ORPHA:79282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hip contracture, Throm... ORPHA:464321
Fetal Gaucher Disease
Abnormality of the spleen, Intracranial hemorrhage, Neonatal death, Stillbirth, Arthrogryposis mu... ORPHA:85212
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Moyamoya phenomenon, Ischemic stroke, ... ORPHA:280679
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Dandy-Walker malformation, Subretinal deposits, Redundant n... ORPHA:397715
Holoprosencephaly
Dandy-Walker malformation, Optic atrophy, Ventricular septal defect, Abnormality of the spleen, C... ORPHA:2162
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Sti... ORPHA:68
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:206448
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Amish Lethal Microcephaly
Optic atrophy, Limb hypertonia, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agenes... ORPHA:99742
Joubert Syndrome 18
Ventricular septal defect, Molar tooth sign on MRI, Intrauterine growth retardation, Camptodactyly OMIM:614815
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormality of the optic nerve, Intracranial hemorrhage, Acute leukemia, Splenomega... ORPHA:3226
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Joubert Syndrome With Ocular Defect
Dextrocardia, Aganglionic megacolon, Retinal coloboma, Retinal dystrophy, Cerebellar vermis hypop... ORPHA:220493
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy, Prolonged bleeding time ORPHA:1114
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... ORPHA:99852
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Ankle flexion contracture, Knee flexion contracture, Camptodactyly, Microcephaly ORPHA:435938
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... ORPHA:255182
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Retinal dystrophy, Molar tooth sign on MRI, Superi... OMIM:617622
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Joubert Syndrome 2
Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Chorioretinal coloboma, Agenesis of cer... OMIM:608091
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Microcephaly OMIM:309400
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Optic atrophy, Simplified gyral pattern, Abnormal cerebral cortex ... ORPHA:411493
Propionic Acidemia
Neutropenia, Limb hypertonia, Anemia, Cardiomyopathy, Cerebral atrophy, Pancytopenia, Thrombocyto... OMIM:606054
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding, Intramuscul... OMIM:227500
Mirage Syndrome
Intracranial hemorrhage, Intrauterine growth retardation, Petechiae, Leukopenia, Anemia, Patent d... OMIM:617053
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Macroglossia, ... ORPHA:453499
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:617121
Joubert Syndrome 7
Brainstem dysplasia, Retinal dystrophy, Abnormal corpus callosum morphology, Hypoplasia of the br... OMIM:611560
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Joubert Syndrome 3
Retinal dystrophy, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pigmentary retinopathy,... OMIM:608629
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Dilated fourth ventricle, Optic disc hypoplasia, Cerebellar vermis hyp... OMIM:619306
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Microcephaly OMIM:617228
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Cranial nerve compression, Congestive heart failure, Hypertens... ORPHA:94080
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Abnormal globus pallidus morphology, Cardiomyopathy, Thrombocytopenia, Cerebellar hem... OMIM:251000
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... OMIM:609583
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Abnormal cranial nerve morphology, Pulmonary embolism, Cerebral calcific... ORPHA:624
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... ORPHA:79139
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Ga... ORPHA:324636
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Optic atrophy, Telangiectasia, Telangiectasia of the skin, Generaliz... ORPHA:79279
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Chorioretinal coloboma, Agenesis of cerebellar vermis, Abnormal cerebr... ORPHA:163961
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Chorioretinal coloboma, Retinal dystrophy, Cerebellar vermis hypoplasia, M... ORPHA:2318
Arima Syndrome
Occipital meningocele, Brainstem dysplasia, Chorioretinal coloboma, Agenesis of cerebellar vermis... OMIM:243910
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Prolonged prothrombin time, EMG: m... ORPHA:99901
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Abnormal midbrain morphology, Ventricular septal d... ORPHA:444072
Wiskott-Aldrich Syndrome
Neutropenia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Recurrent intrapulmonary hemo... ORPHA:906
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Retinal coloboma, Congenital diaphragmatic hernia, Cerebellar vermis hypoplasia, Mol... OMIM:616546
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Congenital diaphragmatic hernia, Atriove... ORPHA:1120
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Intracranial hemorrhage, Anemia, Patent ductus arteriosus, Atrial sept... ORPHA:163979
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Joubert Syndrome 15
Retinal dystrophy, Molar tooth sign on MRI, Retinopathy OMIM:614464
Joubert Syndrome 16
Dandy-Walker malformation, Retinal dystrophy, Molar tooth sign on MRI OMIM:614465
Al-Gazali-Bakalinova Syndrome
Short neck, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Joubert Syndrome 20
Molar tooth sign on MRI, Retinopathy, Abnormal retinal morphology OMIM:614970
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Retinal dystrophy, Inferior verm... ORPHA:370022
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Mitral valve prolapse, Retinal hemorrhage, Angioid streaks of the fundus, Ma... OMIM:177850
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ro... OMIM:618161
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Retinal vascular malformation, Epistaxis, Abnormal cerebr... ORPHA:53719
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... ORPHA:251274
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Leukopenia, Epistaxis, Gastrointestinal hemorr... ORPHA:99828
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Neutropenia, Pancytopenia, Abnormal heart morpholo... ORPHA:398124
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Ane... ORPHA:464329
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Spina bifida occulta ORPHA:64754
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... ORPHA:369929
Hydranencephaly
Stiff neck, Abnormal corpus striatum morphology, Atrophic pituitary gland, Antenatal intracerebra... ORPHA:2177
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Thrombocytopenia, In... ORPHA:49566
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, T2 hypointense basal ganglia, Subdural hemorrhage, Abnormal caudate ... ORPHA:25
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Holoprosenc... ORPHA:1908
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Stroke, Increased hematocrit, Hypotension, In... OMIM:263400
Aspergillosis
Intracranial hemorrhage, Neutropenia, Stroke, Vitritis, Eosinophilia ORPHA:1163
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Macroglossia, Branchial fistula, Webbed neck, Tricuspid valve prolapse... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy, Abnormal cerebral morphology OMIM:113650
Oligomeganephronia
Branchial cyst, Hypertension, Congenital diaphragmatic hernia, Optic disc coloboma, Secundum atri... ORPHA:2260
Hypophosphatasia, Infantile
Intracranial hemorrhage, Anemia, Stillbirth OMIM:241500
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Coach Syndrome 3
Molar tooth sign on MRI, Anemia OMIM:619113
Craniofacial Microsomia
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Branchial ... OMIM:164210
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Schisis Association
Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Joubert Syndrome 37
Broad neck, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Arachnoid Cyst
Chiari malformation, Holoprosencephaly, Cranial nerve compression, Facial palsy, Posterior fossa ... ORPHA:2356
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Spinocerebellar Ataxia Type 1
Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Abnormality of somatosensory evoked p... ORPHA:98755
Chiari Malformation Type Ii
Myelomeningocele, Limb muscle weakness, Spina bifida, Hydrocephalus, Agenesis of corpus callosum OMIM:207950
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Abnormality of dental eruption, Spina bifida, Camptodactyly of f... ORPHA:1327
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the optic nerve, Macroglossia, A... ORPHA:453504
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Poly... ORPHA:220497
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the optic nerve, Macroglossia, A... ORPHA:352665
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia, Cerebellar hemorrhage OMIM:243500
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration, Thickened superior cerebellar peduncle, Cerebellar ... OMIM:610688
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Meningioma
Cerebral hemorrhage, Syncope, Enlarged pituitary gland, Hypothalamic hypothyroidism, Pituitary hy... ORPHA:2495
Vascular Hyalinosis
Chorioretinal scar, Subarachnoid hemorrhage, Hematochezia, Cerebral calcification OMIM:277175
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased muscle lipid content, Antenatal intracerebral hemorrhage, Cardi... OMIM:608836
Cockayne Syndrome Type 3
Optic disc pallor, Skeletal muscle atrophy, Abnormality of peripheral nerve conduction, Retinal d... ORPHA:90324
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Neuronal loss in basal gangli... ORPHA:70474
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Congenital stationary night blindness, Abnormal hypothalamus morpho... ORPHA:314621
Tempi Syndrome
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit ORPHA:284227
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Splenomegaly, Pancytopenia, Diffuse a... ORPHA:99827
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Intracranial hemorrhage, Optic nerve compress... ORPHA:91350
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Joubert Syndrome 9
Retinal dystrophy, Molar tooth sign on MRI OMIM:612285
Acropectorovertebral Dysplasia
Spina bifida, Camptodactyly of finger ORPHA:957
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Aplasia of the left hemidiaphragm, Thickened nuchal skin fold, Sp... ORPHA:2437
Medulloblastoma
Cerebellar cyst, Abnormal cranial nerve morphology, Hydrocephalus, Cerebellar calcifications, Cer... ORPHA:616
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Agene... ORPHA:1136
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Intracranial hemorrhage, Skeletal muscle at... ORPHA:3260
Coach Syndrome 1
Hypertension, Optic disc pallor, Aplasia/Hypoplasia of the cerebellar vermis, Splenomegaly, Cereb... OMIM:216360
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Abnormality of the neck, Cerebral ischemia... ORPHA:494424
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Low posterior hairline, Short neck, Chorioretinal coloboma, Cervical spina bifida OMIM:600122
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Superficial Siderosis
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Persistent bleeding after traum... ORPHA:247245
Dpagt1-Cdg
Optic atrophy, Intracranial hemorrhage, Prolonged QT interval, Anemia, Rod-cone dystrophy, Abnorm... ORPHA:86309
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Hemolytic anemia, Retinal arteriolar tortuosity, Cerebellar atrophy, Schizen... OMIM:175780
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Ventricular septal defect, Retinitis, Retinal coloboma, Holoprosenceph... OMIM:615948
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... OMIM:616501
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Optic disc pallor, Mitral regurgitation, Neonatal death, Left ventricular... OMIM:619167
Familial Afibrinogenemia
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding ORPHA:98880
Mosaic Trisomy 9
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Intrauterine growth retardati... ORPHA:99776
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar cyst, Retinal dystrophy, Abnormal brainstem morphology, Hypo... ORPHA:370997
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Neutropenia, Abnormal heart morphology, Megaloblastic anemia, In... ORPHA:79284
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus... ORPHA:91387
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Cranial nerve compression, Congestive heart failure, Hypertens... ORPHA:276621
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ocular albinism, Hypochromic anemia, Abnormal brainstem morpholo... ORPHA:2720
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Branchial fistula... ORPHA:261330
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Myopathy, Cerebral hemorrhage, Skeletal muscle atrophy, Ante... ORPHA:536545
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Hypertensive r... OMIM:171420
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Pineal cyst, Agenesis of corpus callosum, Optic... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pineal cyst, Agenesis of corpus callosum, Optic... ORPHA:363958
Classic Homocystinuria
Optic atrophy, Hypertension, Intracranial hemorrhage, Abnormality of retinal pigmentation, Cerebr... ORPHA:394
Neu-Laxova Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal ... ORPHA:2671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal dysplasia, Cerebellar malformation, Hydrocephalus, Polymicrogyria, Agyria, Cerebellar hyp... OMIM:236670
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrhage, Intrauterine growt... ORPHA:565
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation, Myelome... ORPHA:1393
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebral am... OMIM:605714
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Hypertension, Shock, Intracranial hemorrhage, Leukocytosis, Petechiae, Palpitations, ... ORPHA:340
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Myopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Abnormality of the op... ORPHA:109
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Trisomy 18
Ventricular septal defect, Chiari malformation, Abnormality of retinal pigmentation, Anencephaly,... ORPHA:3380
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Optic nerve compression, Quadriceps muscle atrophy, Pituit... ORPHA:199244
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia, Cerebellar dysplasia, Absent mesencephalon, Poorly formed metencephalon, Apros... OMIM:601374
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Decreased mea... ORPHA:244242
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Retinal capillary hemangioma, Palpitations, Cranial nerve compression, Conge... ORPHA:29072
Osteogenesis Imperfecta
Cerebral hemorrhage, Abnormal endocardium morphology, Mitral valve prolapse, Intrauterine growth ... ORPHA:666
Iniencephaly
Dandy-Walker malformation, Myelomeningocele, Anencephaly, Holoprosencephaly, Congenital diaphragm... ORPHA:63259
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Joubert Syndrome 39
Retinal dystrophy, Cerebellar vermis hypoplasia, Hypoplastic left heart, Molar tooth sign on MRI,... OMIM:619562
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Pagod Syndrome
Meningocele, Optic atrophy, Abnormality of the spleen, Congenital diaphragmatic hernia, Situs inv... ORPHA:991
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Cervical spina bifid... ORPHA:63260
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Congenital stationary night blindness, Cerebellar dysplasia,... ORPHA:8
Pelvis-Shoulder Dysplasia
Hydranencephaly, Retinal coloboma, Spina bifida, Hydrocephalus, Camptodactyly of finger ORPHA:2839
Joubert Syndrome 8
Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:612291
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Mitral stenosis, Raynaud phenomenon, Delayed eruption of teeth, Trans... ORPHA:740
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... ORPHA:363618
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Optic atrophy, Dandy-Walker mal... OMIM:304050
Neu-Laxova Syndrome 1
Short umbilical cord, Dandy-Walker malformation, Ventricular septal defect, Hydranencephaly, Intr... OMIM:256520
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Partial agenesis of the corpus callosum, Ventricular septal defect, Dand... ORPHA:434179
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Retinal coloboma, Atriovent... ORPHA:508498
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Patent ductus arteriosus, Molar tooth sign on MRI, Cerebellar hypoplas... OMIM:616300
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Ventricular septal defect, Shoulder muscle hypoplasia, Anemia, Cavum septum pelluci... OMIM:274000
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Abnormal heart morphology, Cerebellar vermis hypoplasia, Molar tooth sign... ORPHA:2754
Posterior Meningocele
Meningocele, Occipital meningocele, Chiari malformation, Neural tube defect, Limitation of neck m... ORPHA:268810
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke, Cerebral amyloid angiopathy, Cerebral calcification ORPHA:100006
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... OMIM:616959
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage OMIM:616507
Focal Dermal Hypoplasia
Ventricular septal defect, Chorioretinal coloboma, Congenital diaphragmatic hernia, Telangiectasi... ORPHA:2092
Treacher-Collins Syndrome
Branchial fistula, Hypoplasia of the thymus, Patent ductus arteriosus ORPHA:861
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Trisomy 20P
Spina bifida, Camptodactyly of finger, Low posterior hairline, Short neck, Umbilical hernia, Abno... ORPHA:261318
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arteriosus, Splenome... ORPHA:567
Acute Liver Failure
Shock, Intracranial hemorrhage, Hepatocellular necrosis, Prolonged prothrombin time, Hepatic necr... ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Prolonged prothrombin time, Neonatal death, Intraventricular hem... OMIM:619055
Vacterl With Hydrocephalus
Abnormality of the optic nerve, Arrhinencephaly, Intrauterine growth retardation, Spina bifida, H... ORPHA:3412
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal brainstem morphology, Abnormal putamen morphology, Cerebral edema, A... ORPHA:88619
Joubert Syndrome 38
Inferior vermis hypoplasia, Small pituitary gland, Cerebellar vermis hypoplasia, Molar tooth sign... OMIM:619476
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Retinopathy OMIM:617563
Branchiooculofacial Syndrome
Intrauterine growth retardation, Elbow flexion contracture, Agenesis of cerebellar vermis, Retina... OMIM:113620
Viss Syndrome
Ventricular septal defect, Right ventricular dilatation, Mitral valve prolapse, Epidural hemorrha... OMIM:619472
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93924
Fanconi Anemia
Hypertrophic cardiomyopathy, Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, I... ORPHA:84
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Hypertensive r... OMIM:171300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Small pituitary gland, Molar tooth sign on MRI, Flexion cont... OMIM:619479
Fibular Hemimelia
Abnormal heart morphology, Spina bifida, Thrombocytopenia ORPHA:93323
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, C... ORPHA:2369
Joubert Syndrome 5
Retinal coloboma, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Rod... OMIM:610188
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Ventricular septal defect, Optic disc pallor, Intrauterine growth reta... ORPHA:464311
Acys Amyloidosis
Cerebral hemorrhage, Stroke, Cerebral amyloid angiopathy ORPHA:100008
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Nuchal rigidity, Autonomic bladder dysfunction, Distal low... ORPHA:139417
Hallermann-Streiff Syndrome
Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonary arterial hypertension, Optic disc... OMIM:234100
Jacobsen Syndrome
Ventricular septal defect, Intrauterine growth retardation, Webbed neck, Pachygyria, Spina bifida... ORPHA:2308
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Gangliocytoma
Abnormal prolactin level, Abnormality of the pituitary gland, Abnormal brainstem morphology, Pitu... ORPHA:251937
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Subarachnoid hemorrhage, Mitral valve prolapse, Atrial fibrillation, Mitra... OMIM:613795
Nail-Patella Syndrome
Quadriceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Biceps aplasia, Triceps apl... OMIM:161200
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Torticollis, Atrioventricular canal defect, Patent ductu... OMIM:619480
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma, Hydrocephalus, Calcification of falx cerebri OMIM:109400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Familial Cerebral Cavernous Malformation
Focal T2 hyperintense brainstem lesion, Cerebral hemorrhage, Retinal cavernous angioma, Choroidal... ORPHA:221061
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Abnormal autonomic nervous system physiology, Gonadotropin deficien... ORPHA:293987
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Dysplastic... OMIM:300967
Waardenburg Syndrome, Type 1
Spina bifida, Hypopigmentation of the fundus, Myelomeningocele OMIM:193500
Parkes Weber Syndrome
Muscle hypertrophy of the lower extremities, High-output congestive heart failure, Bounding pulse... ORPHA:90307
Neurofibromatosis, Type I
Hypertension, Rhabdomyosarcoma, Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Schinzel-Giedion Syndrome
Aganglionic megacolon, Neural tube defect, Macroglossia, Abnormal heart morphology, Delayed erupt... ORPHA:798
Riddle Syndrome
Telangiectasia, Conjunctival telangiectasia, Abnormal cerebral white matter morphology, Intravent... ORPHA:420741
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Diffuse cerebellar atrophy, Abnormal brainstem morphology, Hypotension, Cerebral co... ORPHA:93256
Pmm2-Cdg
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Intracranial hemorrhage, Pericarditis, Pe... ORPHA:79318
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... OMIM:192350
Homozygous Familial Hypercholesterolemia
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Optic neuropathy, Mitral reg... ORPHA:391665
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus, Microcephaly ORPHA:322
Split Cord Malformation
Meningocele, Chiari malformation, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Distal ... ORPHA:573278
Visceral Steatosis, Congenital
Abnormal bleeding, Myocardial steatosis, Neonatal death OMIM:228100
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Intrauterine growth retardation, Eruption failure, Ventricular septal hy... OMIM:619322

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 Lemd2

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 Lemd2.

No publications found that use IMPC mice or data for Lemd2.

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MGI Allele Allele Type Produced
Lemd2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lemd2em1(IMPC)Bay Exon Deletion Mice, Tissue

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