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Gene: Ninj1 MGI:1196617

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ninjurin 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ninj1 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.

Human diseases associated with Ninj1 (0 diseases)
Human diseases predicted to be associated with Ninj1 (485 diseases)

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

The table below shows human diseases predicted to be associated to Ninj1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy...	OMIM:300067
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Atypical Teratoid Rhabdoid Tumor	Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia	ORPHA:99966
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:604213
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Masa Syndrome	Lower limb spasticity, Short stature, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling ga...	OMIM:303350
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Simplified gyral pattern	OMIM:619470
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia, Pachygyria	OMIM:618174
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei...	OMIM:203450
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature, Ataxia, Impaired pain sensation	ORPHA:1532
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Eosinophilopenia	Autoimmunity	OMIM:131430
Pontocerebellar Hypoplasia, Type 15	Spastic tetraplegia, Hydrocephalus, Hypertonia, Simplified gyral pattern	OMIM:619302
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ...	ORPHA:73256
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Spastic paraplegia, Gray ma...	OMIM:615191
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia	ORPHA:444463
Acalvaria	Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida	ORPHA:945
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi...	OMIM:616034
Fried Syndrome	Hydrocephalus, Gait disturbance, Spastic diplegia	ORPHA:85335
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance	ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function	OMIM:300884
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hypertonia	ORPHA:250994
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Gait disturbance, Intrauterine growth retardation, Ventricu...	ORPHA:272
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Short stature, Ataxia	ORPHA:31
Alexander Disease Type I	Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer...	OMIM:207950
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Spasticity, Ventric...	OMIM:610333
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Delayed puberty	ORPHA:141333
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	OMIM:615599
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Lissencephaly	ORPHA:1528
L1 Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity	ORPHA:275543
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	ORPHA:397951
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty	OMIM:618985
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Lissencepha...	OMIM:613153
Krabbe Disease	Autoimmune thrombocytopenia, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spastic...	OMIM:245200
Griscelli Syndrome	Encephalocele, Short stature, Ataxia, Hydrocephalus, Decreased circulating antibody level, Bone m...	ORPHA:381
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity	ORPHA:2182
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity	OMIM:609054
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Poly...	OMIM:225790
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria	ORPHA:83473
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Spasticity, Spastic paraplegia, Hydrocephalus	OMIM:307000
Nasu-Hakola Disease	Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Ventriculomegaly	ORPHA:2770
Corpus Callosum, Partial Agenesis Of, X-Linked	Spasticity, Hydrocephalus, Ventriculomegaly	OMIM:304100
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly	ORPHA:588
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia	OMIM:220220
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Spastic tetraplegia	OMIM:300886
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Ataxia	ORPHA:1861
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:602501
Sjogren Syndrome	Autoimmunity, Rheumatoid arthritis	OMIM:270150
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly...	ORPHA:93274
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Short stature, Ataxia, Periventricular heterotopia, Hydrocephalus, Colpocephaly, ...	OMIM:619833
Congenital Toxoplasmosis	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:858
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature	ORPHA:1516
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short stature, Clumsiness	OMIM:300558
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short stature	ORPHA:2183
Amelocerebrohypohidrotic Syndrome	Spasticity, Short stature, Hydrocephalus	ORPHA:1946
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Temple Syndrome	Postnatal growth retardation, Hydrocephalus, Short stature	ORPHA:254516
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Polymicrogyria, Type II lissencephaly	OMIM:615181
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Hydrocephalus, Gait disturbance	ORPHA:2181
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity	ORPHA:231154
Edinburgh Malformation Syndrome	Hydrocephalus, Hypertonia, Abnormality of neuronal migration	ORPHA:1895
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Clonus, Hydrocephalus, Abnor...	ORPHA:370959
Thanatophoric Dysplasia	Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Intrauterine g...	ORPHA:2655
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Joubert Syndrome	Encephalocele, Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Gait disturbance...	ORPHA:475
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Decre...	OMIM:615190
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Short stature, Hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:609757
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Cerebral palsy, Ataxia, Abnormal central motor function, Autoimmunit...	ORPHA:760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hydrocephalus	OMIM:613155
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Impaired T cell function, Hydrocephalus, Decreased specific anti-poly...	OMIM:614576
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetrapleg...	OMIM:618476
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasc...	OMIM:614969
Desmosterolosis	Severe short stature, Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neurona...	ORPHA:35107
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Hydrocephalus, Unsteady gait	OMIM:617542
Joubert Syndrome With Renal Defect	Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Polymicrogyria	ORPHA:220497
Adams-Oliver Syndrome 2	Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Hogue-Janssen Syndrome 2	Inability to walk, Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616362
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Hypertonia, Lissencephaly, Intrauterine growth retardation, Dandy-Walker malformation	OMIM:612938
Multiple Sulfatase Deficiency	Short stature, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventriculo...	OMIM:272200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Oculomotor apraxia, Hydrocephalus, Short stature, Ventriculomegaly	OMIM:615630
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus, Bone marrow hypocellularity	OMIM:617244
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Colpocephaly, Polymicrogyria, Ventriculomegaly	OMIM:620156
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus	OMIM:619111
Optic Pathway Glioma	Growth delay, Hydrocephalus	ORPHA:2086
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance	OMIM:613330
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Ataxia	ORPHA:65285
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Simplified gyral pa...	ORPHA:300570
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Polymicrogyria	ORPHA:220493
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Hydrocephalus	ORPHA:1914
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Hypertonia, Spastic tetraparesis	ORPHA:171839
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Lower limb hypertonia, Intrauterine growth retardati...	ORPHA:2169
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, D...	OMIM:304340
Metatropic Dysplasia	Hydrocephalus, Severe short stature	ORPHA:2635
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa...	OMIM:611134
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus	OMIM:300863
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:603387
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Hemangioblastoma	Dysesthesia, Hydrocephalus	ORPHA:252054
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Short stature	OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Short stature	ORPHA:2701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr...	OMIM:614643
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:218350
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Growth delay, Ataxia, Communicating hydrocephalus, Decreased circulating antibody level	OMIM:616084
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Icf Syndrome	Communicating hydrocephalus, Short stature, Decreased circulating antibody level	ORPHA:2268
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
Walker-Warburg Syndrome	Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal ...	ORPHA:899
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Ataxia, Abnormality of neuronal migration	ORPHA:2318
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:109120
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Growth delay, Decreased circulating total IgM, Lateral ventricle dilatation, Decre...	OMIM:612301
Temple Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature	OMIM:616222
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Lissencephaly, Agyria, Type II lissencephaly	OMIM:615249
Arachnoiditis	Hydrocephalus, Paresthesia	ORPHA:137817
Joubert Syndrome 14	Encephalocele, Ataxia, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation	OMIM:614424
3C Syndrome	Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neur...	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hydrocephalus, Lissencephaly, Holoprosenceph...	OMIM:253800
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis...	ORPHA:25
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hemiplegia/hemiparesis, Hydrocephalus, Polymicrogyria, Ventriculomegaly	ORPHA:1647
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Hypertonia, Short stature, Ataxia	ORPHA:2720
Dural Sinus Malformation	Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ...	ORPHA:97339
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Oculomotor apraxia, Dand...	OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Gait disturbance, Sp...	ORPHA:395
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus	ORPHA:85284
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit...	ORPHA:616
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus	ORPHA:163966
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short...	OMIM:187600
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp...	ORPHA:268810
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Hydrocephalus, Spa...	OMIM:617281
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Short stature, Ataxia, Postnatal growth retardation, Spastic paraple...	ORPHA:168577
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly	ORPHA:1860
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd...	OMIM:619895
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Ventriculomegaly	ORPHA:60040
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Paraparesis, Hydrocephalus, S...	ORPHA:2356
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Noncommunicating hydrocephalus, Clumsiness	OMIM:619320
Congenital Sialidosis Type 2	Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity	ORPHA:93400
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Pelvis-Shoulder Dysplasia	Waddling gait, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, ...	ORPHA:2839
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Short stature	OMIM:616294
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Gait d...	ORPHA:1454
Tenorio Syndrome	Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Ventriculomegaly	OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:616538
Trisomy 17P	Short stature, Hydrocephalus, Growth delay, Hypertonia, Intrauterine growth retardation	ORPHA:261290
Tetrasomy 15Q26	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Albers-Schönberg Osteopetrosis	Hydrocephalus, Short stature	ORPHA:53
1Q44 Microdeletion Syndrome	Growth delay, Hydrocephalus, Short stature, Ventriculomegaly	ORPHA:238769
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Emanuel Syndrome	Torticollis, Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malfo...	OMIM:609029
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Short stature	OMIM:112240
Rhombencephalosynapsis	Hydrocephalus, Ataxia, Ventriculomegaly	ORPHA:59315
Crouzon Syndrome	Hydrocephalus	ORPHA:207
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Alexander Disease	Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr...	ORPHA:58
Monosomy 18Q	Short stature, Hydrocephalus, Poor coordination, Growth delay, Choreoathetosis, Decreased circula...	ORPHA:1600
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Short stature, Hydrocephalus, Ataxia	ORPHA:220295
Lowry-Maclean Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus, Hemiparesis	ORPHA:2409
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Hydrocephalus, Gait disturbance, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Cerebral Visual Impairment	Oculomotor apraxia, Hydrocephalus, Cerebral palsy, Clumsiness	ORPHA:447788
Neonatal Lupus Erythematosus	Hydrocephalus, Autoimmune antibody positivity	ORPHA:398124
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Hydrocephalus, Short stature	OMIM:614886
Emanuel Syndrome	Hydrocephalus, Growth delay, Intrauterine growth retardation, Dandy-Walker malformation, Ventricu...	ORPHA:96170
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Tetraplegia, Intrau...	OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Short stature, Dandy-Walker malformation	ORPHA:459061
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Fanconi Anemia, Complementation Group B	Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:300514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Osteopetrosis, Autosomal Recessive 5	Short stature, Clonus, Hydrocephalus, Spastic tetraplegia, Growth delay, Hypertonia, Ventriculome...	OMIM:259720
Chromosome 6Q24-Q25 Deletion Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus	OMIM:224400
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Fg Syndrome Type 1	Broad-based gait, Short stature, Hydrocephalus, Ventriculomegaly	ORPHA:93932
Whipple Disease	Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Ventriculomegaly	OMIM:613150
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Hydrocephalus, Rhizomelia	OMIM:618162
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Oculomotor apraxia	OMIM:608091
Tetrasomy 5P	Postnatal growth retardation, Hydrocephalus	ORPHA:3309
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Cutis Laxa, Autosomal Recessive, Type Iib	Intrauterine growth retardation, Hydrocephalus	OMIM:612940
Primary Ciliary Dyskinesia	Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Facial paralysis	OMIM:259710
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus	OMIM:613686
Achondroplasia	Hydrocephalus, Disproportionate short stature, Rhizomelia	ORPHA:15
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Ventriculomegaly	ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Meningoencephalocel...	OMIM:236670
Mirage Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature, Paraplegia	OMIM:617053
Gracile Bone Dysplasia	Hydrocephalus, Short stature	OMIM:602361
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Short stature	ORPHA:1834
Trisomy 1Q	Hydrocephalus, Ventriculomegaly	ORPHA:261344
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Holoprosencephaly	OMIM:264480
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Disproportionate short stature, Severe short stature, Rhizomelia, Hydrocephalus	OMIM:616482
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:157
Adams-Oliver Syndrome	Hemiparesis, Encephalocele, Hypertonia, Hydrocephalus	ORPHA:974
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Short stature, Hydrocephalus, Distal sensory impairment, Growth delay	OMIM:616007
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Gaucher Disease	Short stature, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Increased circulating antib...	ORPHA:355
Mucopolysaccharidosis, Type Ii	Mild short stature, Hydrocephalus, Severe short stature, Short stature	OMIM:309900
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor...	OMIM:101800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature	ORPHA:1064
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Ventriculomegaly	ORPHA:228308
7Q11.23 Microduplication Syndrome	Short stature, Hydrocephalus, Unsteady gait, Simplified gyral pattern, Dysmetria, Growth delay, V...	ORPHA:96121
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus	OMIM:239300
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Hydrocephalus	ORPHA:2075
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis	OMIM:259700
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature	OMIM:253220
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Severe short stature	ORPHA:1865
Hurler Syndrome	Cerebral palsy, Short stature, Hydrocephalus, Abnormal pyramidal sign, Growth delay, Spastic para...	ORPHA:93473
Multiple Sulfatase Deficiency	Hydrocephalus, Short stature	ORPHA:585
Congenital Myopathy 22A, Classic	Waddling gait, Frequent falls, Normal pressure hydrocephalus	OMIM:620351
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Increased circulating IgM level, Bone marrow hypocellularity, D...	ORPHA:505248
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, Ventriculomegaly	OMIM:616546
Distal Triplication 15Q	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Desmosterolosis	Spasticity, Rhizomelia, Hydrocephalus, Ventriculomegaly	OMIM:602398
Cole-Carpenter Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:2050
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Spasticity, Short stature, Hydrocephalus	OMIM:305450
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Spasticity, Hydrocephalus	OMIM:618590
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Focal polymicrogyria	OMIM:612651
Neurooculorenal Syndrome	Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:620305
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malfor...	OMIM:605627
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus	ORPHA:2306
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p...	ORPHA:54595
Functioning Gonadotropic Adenoma	Hydrocephalus, Delayed puberty	ORPHA:91348
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Hydrocephalus, Short stature, Paresthesia	ORPHA:579
Fanconi Anemia, Complementation Group L	Growth delay, Intrauterine growth retardation, Hydrocephalus, Bone marrow hypocellularity	OMIM:614083
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Short stature	OMIM:130720
Cardiofaciocutaneous Syndrome 1	Oculomotor apraxia, Hydrocephalus, Hypertonia, Short stature	OMIM:115150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,...	OMIM:619475
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Hypertonia, Gait disturbance,...	ORPHA:581
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Holoprosencephaly	Encephalocele, Hydrocephalus, Chorea, Abnormality of neuronal migration, Spinal dysraphism, Holop...	ORPHA:2162
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Increased circulating IgG level, In...	ORPHA:228123
Chromosome 17P13.1 Deletion Syndrome	Ankle clonus, Hydrocephalus, Spina bifida	OMIM:613776
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Growth delay, Hypert...	ORPHA:2072
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Hydrocephalus, Growth delay, Poor fine motor coordination, Intrauterine growth retardation	ORPHA:79282
Achondroplasia	Hydrocephalus, Neonatal short-limb short stature, Rhizomelia	OMIM:100800
Marshall-Smith Syndrome	Short stature, Hydrocephalus, Macrogyria, Hypertonia, Pachygyria, Ventriculomegaly	OMIM:602535
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Spin...	ORPHA:235
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Hurler Syndrome	Hydrocephalus, Short stature	OMIM:607014
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Short stature, Hydrocephalus	OMIM:245600
Jacobsen Syndrome	Intrauterine growth retardation, Spasticity, Hydrocephalus, Holoprosencephaly	OMIM:147791
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Cryptococcosis	Hydrocephalus, Autoimmunity, Systemic lupus erythematosus	ORPHA:1546
15Q Overgrowth Syndrome	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature	ORPHA:250989
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia	OMIM:260660
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation	OMIM:619575
Aymé-Gripp Syndrome	Postnatal growth retardation, Hydrocephalus, Short stature, Ventriculomegaly	ORPHA:1272
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Short-Rib Thoracic Dysplasia 12	Intrauterine growth retardation, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Mohr Syndrome	Hydrocephalus, Short stature	OMIM:252100
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
H Syndrome	Hydrocephalus, Short stature, Delayed puberty	ORPHA:168569
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function	OMIM:277400
Orofaciodigital Syndrome I	Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia	OMIM:311200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Torticollis, Hydrocephalus	ORPHA:536467
Osteogenesis Imperfecta	Somatic sensory dysfunction, Rhizomelia, Short stature, Ataxia, Hydrocephalus, Noncommunicating h...	ORPHA:666
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Short stature, Bone marrow hypocellularity	OMIM:227646
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Hyperesthesia	ORPHA:637
22Q11.2 Deletion Syndrome	Short stature, Autoimmunity, Impaired T cell function, Spina bifida, Hydrocephalus, Meningocele, ...	ORPHA:567
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Cockayne Syndrome A	Short stature, Ataxia, Tremor, Severe postnatal growth retardation, Normal pressure hydrocephalus...	OMIM:216400
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Cardiofaciocutaneous Syndrome	Hydrocephalus, Short stature	ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus, Myoclonus, Spasticity, Pachygyria, Polymicrogyria, Type II lisse...	OMIM:253280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Hydrocephalus, Disproportionate short stature, Microlissencephaly, Se...	OMIM:210710
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Short stature	OMIM:154400
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly, Short stature, Abnormal cortical gyration	OMIM:610829
Apert Syndrome	Rhizomelic arm shortening, Hydrocephalus, Ventriculomegaly	OMIM:101200
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Mend Syndrome	Hydrocephalus, Hypertonia, Short stature, Dandy-Walker malformation	OMIM:300960
Mend Syndrome	Hydrocephalus, Short stature, Dandy-Walker malformation, Limb hypertonia	ORPHA:401973
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature	OMIM:253200
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation	ORPHA:1780
Smith-Lemli-Opitz Syndrome	Short stature, Periventricular heterotopia, Hydrocephalus, Growth delay, Colpocephaly, Hypertonia...	OMIM:270400
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Semilobar Holoprosencephaly	Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Short stature, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93924
Raine Syndrome	Hydrocephalus, Short stature	OMIM:259775
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Dextrocardia	Hydrocephalus	ORPHA:1666
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cockayne Syndrome B	Severe short stature, Ataxia, Postnatal growth retardation, Tremor, Normal pressure hydrocephalus...	OMIM:133540
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Hydrocephalus, Hemiparesis, Difficulty...	ORPHA:2495
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Spina bifida, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Spina bifida, Postnatal growth retardation, Hydrocephalus, Ventriculomegaly	ORPHA:363958
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Short stature, Colpocephaly	OMIM:309801
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Short stature	OMIM:300373
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Tetrasomy 9P	Hydrocephalus, Systemic lupus erythematosus, Lissencephaly, Intrauterine growth retardation, Pach...	ORPHA:3310
Marden-Walker Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus, Severe short stature	ORPHA:2461
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus	OMIM:619512
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:617011
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Spastic paraplegia, Ataxia, Clumsiness	ORPHA:309282
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Stromme Syndrome	Hydrocephalus	OMIM:243605
Wiedemann-Rautenstrauch Syndrome	Short stature, Ataxia, Action tremor, Tremor, Hydrocephalus, Growth delay, Hypertonia, Severe int...	ORPHA:3455
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Kabuki Syndrome	Hydrocephalus, Short stature, Ventriculomegaly	ORPHA:2322
Neurofibromatosis Type 1	Short stature, Ataxia, Hydrocephalus, Paresthesia, Delayed puberty	ORPHA:636
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventri...	ORPHA:84
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Hajdu-Cheney Syndrome	Hydrocephalus, Short stature, Delayed puberty	ORPHA:955
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Short stature	ORPHA:163979
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly, Difficulty walking, Gait ataxia	ORPHA:457359
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Delayed puberty	ORPHA:95699
Fontaine Progeroid Syndrome	Short stature, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Intrauterine ...	OMIM:612289
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Hydrocephalus, Tremor	ORPHA:667
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Kabuki Syndrome 1	Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Hydrocephalus, Growth d...	OMIM:147920
Hajdu-Cheney Syndrome	Hydrocephalus, Short stature	OMIM:102500
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat...	OMIM:114290
Histiocytoid Cardiomyopathy	Hemiplegia, Hydrocephalus	ORPHA:137675
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Short stature, Gait disturbance	ORPHA:3042
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Wiedemann-Rautenstrauch Syndrome	Short stature, Hydrocephalus, Hypertonia, Truncal ataxia, Intrauterine growth retardation, Dandy-...	OMIM:264090
Yunis-Varon Syndrome	Postnatal growth retardation, Hydrocephalus, Pachygyria, Short stature	ORPHA:3472
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Wolf-Hirschhorn Syndrome	Short stature, Hydrocephalus, Growth delay, Severe postnatal growth retardation, Intrauterine gro...	OMIM:194190
Baller-Gerold Syndrome	Severe short stature, Short stature, Hydrocephalus, Spina bifida occulta, Severe intrauterine gro...	OMIM:218600
Peters Plus Syndrome	Rhizomelia, Short stature, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li...	ORPHA:709
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Severe short stature	ORPHA:2658
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Hydrocephalus, Short stature	OMIM:619321
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Intrauter...	OMIM:236680
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short stature, Poor coordination, Limb tremor, Mild fetal ventriculo...	OMIM:619841
Pseudoaminopterin Syndrome	Hydrocephalus, Short stature	ORPHA:221120
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele, Abnormal cortical gyration	OMIM:219000
Microphthalmia With Limb Anomalies	Hydrocephalus, Short stature	ORPHA:1106
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Hydrocephalus	OMIM:306955
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Hydrocephalus, Severe short stature	ORPHA:2556
Split Cord Malformation	Paraparesis, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Cervical spina b...	ORPHA:573278
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Lower limb dysmetria, Short stature	ORPHA:363700
Costello Syndrome	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Growth delay, Lateral ventricle dilatation, Pachygyria, Polymicrogyria	OMIM:607872
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spasticity, Facial paralysis	OMIM:175780
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Peters-Plus Syndrome	Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, D...	OMIM:261540
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Hydrocephalus	OMIM:208150
Mucopolysaccharidosis Type 2	Growth delay, Short stature, Communicating hydrocephalus	ORPHA:580
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele	OMIM:305600
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Hydrocephalus, Short stature, Spina bifida	OMIM:304120
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Spasticity	OMIM:619534
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Coffin-Siris Syndrome 12	Short stature, Noncommunicating hydrocephalus	OMIM:619325
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re...	OMIM:268300
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus	OMIM:312870
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	OMIM:164210

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 Ninj1

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 Ninj1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deficiency of Ninjurin1 attenuates LPS/D-galactosamine-induced acute liver failure by reducing TNF-α-induced apoptosis in hepatocytes.	Journal of cellular and molecular medicine (September 2022)	Ninj1^{tm1c(KOMP)Wtsi}	PMC9575046
Pericyte-specific deletion of ninjurin-1 induces fragile vasa vasorum formation and enhances intimal hyperplasia of injured vasculature.	American journal of physiology. Heart and circulatory physiology (May 2021)	Ninj1^{tm1a(KOMP)Wtsi}	33961504
Detrimental Role of Nerve Injury-Induced Protein 1 in Myeloid Cells under Intestinal Inflammatory Conditions.	International journal of molecular sciences (January 2020)	Ninj1^{tm1c(KOMP)Wtsi}	PMC7013940
Pericyte-Specific Ninjurin1 Deletion Attenuates Vessel Maturation and Blood Flow Recovery in Hind Limb Ischemia.	Arteriosclerosis, thrombosis, and vascular biology (October 2018)	Ninj1^{tm1a(KOMP)Wtsi}	PMC6166707
Ninjurin 1 has two opposing functions in tumorigenesis in a p53-dependent manner.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Ninj1^{tm1b(KOMP)Wtsi}	PMC5664541
Reporter Gene Silencing in Targeted Mouse Mutants Is Associated with Promoter CpG Island Methylation.	PloS one (August 2015)	Ninj1^{tm1a(KOMP)Wtsi}	PMC4537176
Ninjurin1, a target of p53, regulates p53 expression and p53-dependent cell survival, senescence, and radiation-induced mortality.	Proceedings of the National Academy of Sciences of the United States of America (May 2013)	Ninj1^{tm1a(KOMP)Wtsi} Ninj1^{tm1b(KOMP)Wtsi}	PMC3677487

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
Ninj1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ninj1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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