Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Polrmt MGI:1915843

Gene Summary

Name:

polymerase (RNA) mitochondrial (DNA directed)

Synonyms:

1110018N15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
enlarged lymph nodes	Polrmt^em1(IMPC)Mbp	HET	Early adult
embryonic lethality prior to organogenesis	Polrmt^em1(IMPC)Mbp	HOM	E9.5
abnormal brain morphology	Polrmt^em1(IMPC)Mbp	HET	Early adult
hydrocephaly	Polrmt^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, incomplete penetrance	Polrmt^em1(IMPC)Mbp	HOM	Early adult
abnormal lymph node morphology	Polrmt^em1(IMPC)Mbp	HET	Early adult

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.

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

75 Images

View images

Gross Morphology Embryo E9.5

Images

4 Images

View images

Human diseases caused by Polrmt 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 Polrmt (1 diseases)
Human diseases predicted to be associated with Polrmt (689 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Combined Oxidative Phosphorylation Deficiency 55		Ventriculomegaly	OMIM:619743

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

Disease	Matching phenotypes	Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Kerion Celsi	Lymphadenopathy	ORPHA:499
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Aicardi-Goutieres Syndrome 4	Splenomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Ventriculomegaly	OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Lymphadenopathy	ORPHA:858
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Fried Syndrome	Hydrocephalus	ORPHA:85335
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hydrocephalus	ORPHA:163596
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy	OMIM:603552
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L...	OMIM:615559
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Infantile Sialic Acid Storage Disease	Splenomegaly, Hydrocephalus	OMIM:269920
Griscelli Syndrome	Encephalocele, Splenomegaly, Hydrocephalus, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:381
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hydrocephalus, Ventriculomegaly	OMIM:615630
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
B4Galt1-Cdg	Splenomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hydrocephalus	OMIM:602361
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Heme Oxygenase 1 Deficiency	Asplenia, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Nephroblastoma	Lymphadenopathy	ORPHA:654
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Proteus-Like Syndrome	Communicating hydrocephalus, Splenomegaly, Thymus hyperplasia, Hydrocephalus	ORPHA:2969
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Leishmaniasis	Splenomegaly, Lymphadenopathy	ORPHA:507
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Temple Syndrome	Hydrocephalus	ORPHA:254516
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Fanconi Anemia, Complementation Group R	Hydrocephalus, Bone marrow hypocellularity	OMIM:617244
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Hydrocephalus, Ventriculomegaly	OMIM:614576
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Hepatosplenomegaly	OMIM:259710
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Lymphadenopathy	OMIM:304790
Primary Ciliary Dyskinesia	Asplenia, Hydrocephalus, Ventriculomegaly, Polysplenia	ORPHA:244
Arachnoiditis	Hydrocephalus	ORPHA:137817
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Neonatal Lupus Erythematosus	Splenomegaly, Hydrocephalus	ORPHA:398124
Temple Syndrome	Hydrocephalus	OMIM:616222
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Increased CSF protein concentration, CSF pleocytosis, Lymphadenopathy	OMIM:267700
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Whipple Disease	Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus	ORPHA:3452
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Hydrocephalus	ORPHA:1834
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus	ORPHA:585
Hemophagocytic Lymphohistiocytosis, Familial, 2	CSF pleocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Increased CSF protein concent...	OMIM:603553
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Hydrocephalus	OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Lymphoproliferative Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:613011
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, CSF pleocytosis, Lymphadenopathy	ORPHA:540
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy	ORPHA:160
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Gaucher Disease, Type Iiic	Splenomegaly, Hydrocephalus	OMIM:231005
Cinca Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Congenital Sialidosis Type 2	Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Ciliary Dyskinesia, Primary, 1	Asplenia, Communicating hydrocephalus	OMIM:244400
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Mucopolysaccharidosis, Type Ii	Splenomegaly, Hydrocephalus, Hepatosplenomegaly	OMIM:309900
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
3C Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Hurler Syndrome	Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly	OMIM:607014
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
H Syndrome	Hydrocephalus, Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Desmosterolosis	Splenomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:35107
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Trisomy 1Q	Hydrocephalus, Ventriculomegaly	ORPHA:261344
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation	OMIM:612938
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Legionnaires Disease	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Coccidioidomycosis	Abnormality of the spleen, Hydrocephalus, Mediastinal lymphadenopathy, CSF pleocytosis, Lymphaden...	ORPHA:228123
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Mirage Syndrome	Hypoplastic spleen, Hydrocephalus	OMIM:617053
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Mucopolysaccharidosis Type 1	Splenomegaly, Hydrocephalus, Abnormality of the tonsils	ORPHA:579
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopathy	ORPHA:538
Knobloch Syndrome	Lymphangioma, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Osteopetrosis, Autosomal Recessive 5	Splenomegaly, Hydrocephalus, Ventriculomegaly, Hepatosplenomegaly	OMIM:259720
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Joubert Syndrome With Hepatic Defect	Splenomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly	OMIM:618986
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Trisomy 17P	Hydrocephalus	ORPHA:261290
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:615895
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Hurler Syndrome	Splenomegaly, Hydrocephalus, Abnormality of the tonsils	ORPHA:93473
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Fg Syndrome Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:93932
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly	OMIM:300514
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system	ORPHA:137667
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Mucopolysaccharidosis, Type Vii	Splenomegaly, Hydrocephalus	OMIM:253220
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Splenomegaly	OMIM:616084
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Stromme Syndrome	Accessory spleen, Hydrocephalus	OMIM:243605
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia, Ventriculomegaly	OMIM:619418
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy	OMIM:617591
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Achondroplasia	Hydrocephalus	ORPHA:15
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus	OMIM:115150
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:264480
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Splenic cyst	OMIM:618188
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Distal Triplication 15Q	Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Meckel Syndrome	Encephalocele, Accessory spleen, Asplenia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, D...	ORPHA:564
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Cryptococcosis	Mediastinal lymphadenopathy, Hydrocephalus	ORPHA:1546
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly	ORPHA:168577
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Holoprosencephaly	Encephalocele, Abnormality of the spleen, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Da...	ORPHA:2162
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo...	ORPHA:50918
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy	ORPHA:33226
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Mucopolysaccharidosis Type 3	Adenoiditis, Splenomegaly, Hydrocephalus, Recurrent tonsillitis, Ventriculomegaly	ORPHA:581
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Asplenia, ...	OMIM:249000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hydrocephalus, Lymphadenopathy	ORPHA:667
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Bone marrow hypocellularity, Hepatosplenomegaly	ORPHA:505248
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Chediak-Higashi Syndrome	Splenomegaly, Lymphadenopathy	OMIM:214500
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:602782
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Mucopolysaccharidosis, Type Vi	Splenomegaly, Hydrocephalus, Cervical myelopathy	OMIM:253200
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Poems Syndrome	Lymphadenopathy	ORPHA:2905
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Monosomy 18Q	Hydrocephalus	ORPHA:1600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Q Fever	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:781
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
Achondroplasia	Hydrocephalus	OMIM:100800
Fanconi Anemia, Complementation Group L	Hydrocephalus, Bone marrow hypocellularity	OMIM:614083
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Polysplenia	OMIM:306955
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Mohr Syndrome	Hydrocephalus	OMIM:252100
Hennekam Syndrome	Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy	ORPHA:2136
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Apert Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:101200
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Abnormality of the spleen, Hydrocephalus, Hepatosplenomegaly, Ventriculomegaly	ORPHA:2072
Medulloblastoma	Hydrocephalus	ORPHA:616
7Q11.23 Microduplication Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:96121
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615688
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Occipital mye...	ORPHA:567
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Bone marrow hypocellularity	OMIM:227646
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus	OMIM:619512
1Q21.1 Microdeletion Syndrome	Hydrocephalus	ORPHA:250989
Opitz-Kaveggia Syndrome	Hydrocephalus	OMIM:305450
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Marshall-Smith Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602535
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus	OMIM:273395
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Chédiak-Higashi Syndrome	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:167
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Hajdu-Cheney Syndrome	Splenomegaly, Hydrocephalus	ORPHA:955
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Raine Syndrome	Hydrocephalus	OMIM:259775
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta	OMIM:300373
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Pseudoaminopterin Syndrome	Asplenia, Hydrocephalus	ORPHA:221120
Neurooculorenal Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly	OMIM:620305
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:270400
Cockayne Syndrome A	Splenomegaly, Thymic hormone decreased, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Colpocephaly	OMIM:309801
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Hepatosplenomegaly	ORPHA:309282
Gaucher Disease	Splenomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:355
Familial Mediterranean Fever	Splenomegaly, Lymphadenopathy	ORPHA:342
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Abnormal thymus morphology, Hydrocephalus	OMIM:219000
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus	ORPHA:95699
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus	OMIM:154400
Costello Syndrome	Hydrocephalus, Lymphangiectasis, Ventriculomegaly	OMIM:218040
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Sarcoidosis	Abnormal lymph node morphology, Increased CSF protein concentration, Abnormal cerebrospinal fluid...	ORPHA:797
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly	OMIM:619475
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Fanconi Anemia	Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:84
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Marden-Walker Syndrome	Hydrocephalus	ORPHA:2461
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Splenomegaly, Enlarged tonsils	ORPHA:580
Cockayne Syndrome B	Splenomegaly, Normal pressure hydrocephalus	OMIM:133540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly	ORPHA:666
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Wolf-Hirschhorn Syndrome	Accessory spleen, Hydrocephalus, Ventriculomegaly	OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Brucellosis	Hypersplenism, Splenomegaly, Lymphadenopathy	ORPHA:1304
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules, Pulmonary lymphangiomyomatosis	ORPHA:805
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus	ORPHA:261337
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Hypoplasia of the thymus, Dandy-Walker malformation	OMIM:264090
Meningioma	Hydrocephalus	ORPHA:2495
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Colpocephaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:210710
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619381
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
African Trypanosomiasis	Splenomegaly, Myelopathy, Hepatosplenomegaly, Lymphadenopathy, Ventriculomegaly	ORPHA:3385
Hydrolethalus Syndrome 1	Accessory spleen, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus	OMIM:236680
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Fontaine Progeroid Syndrome	Hydrocephalus	OMIM:612289
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Crimean-Congo Hemorrhagic Fever	Splenomegaly, Lymphadenopathy	ORPHA:99827
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Blau Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:90340
Tetrasomy 9P	Hydrocephalus, Dandy-Walker malformation	ORPHA:3310
Yunis-Varon Syndrome	Hydrocephalus	ORPHA:3472
Marburg Hemorrhagic Fever	Lymphadenopathy	ORPHA:99826
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly	OMIM:619841
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Simpson-Golabi-Behmel Syndrome, Type 1	Splenomegaly, Hydrocephalus, Polysplenia	OMIM:312870
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:619534
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Lateral ventricle dilatation	OMIM:607872
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Abnormal lymph node morphology	ORPHA:99889
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus	ORPHA:3455
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hydrocephalus, Frontal encephalocele	OMIM:268300
Peters-Plus Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:261540
Leptospirosis	Lymphadenopathy	ORPHA:509
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus	OMIM:619325
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus	OMIM:164210
Combined Oxidative Phosphorylation Deficiency 55	Ventriculomegaly	OMIM:619743

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 Polrmt

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Polrmt.

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

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
Polrmt^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Polrmt^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Polrmt^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Polrmt^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Polrmt MGI:1915843

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Polrmt mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data