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Gene: Tinf2 MGI:107246

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Terf1 (TRF1)-interacting nuclear factor 2

Synonyms:

D14Wsu146e, TIN2

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 Tinf2 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 Tinf2 (4 diseases)
Human diseases predicted to be associated with Tinf2 (791 diseases)

The table below shows human diseases associated to Tinf2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:613990
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Dyskeratosis Congenita	Neoplasm of the pancreas, Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Spleno...	ORPHA:1775
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ventriculomegaly, Anemia, Bone marrow hypocellularity, Thrombocyto...	ORPHA:3322

The table below shows human diseases predicted to be associated to Tinf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art...	OMIM:604416
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Hydrocephalus, Congenital, 1	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:236600
Central Precocious Puberty In Male	Astrocytoma, Acne, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Seizure...	ORPHA:649929
Aicardi-Goutieres Syndrome 4	Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ...	OMIM:610333
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Acute Erythroid Leukemia	Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel...	ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l...	OMIM:619924
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular...	OMIM:619041
Alopecia-Intellectual Disability Syndrome 4	Hypospadias, Bilateral cryptorchidism, Seizure, Erythroderma, Micropenis	OMIM:618840
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Thrombocytopenia	OMIM:209970
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Status epilepticus, Myoclonus...	ORPHA:99802
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure, Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testic...	OMIM:618165
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Seizure, Hydrocephalus	ORPHA:2807
Bone Marrow Failure Syndrome 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:614675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thromboc...	OMIM:304790
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my...	OMIM:266100
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs...	OMIM:620282
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Methylmalonic Acidemia With Homocystinuria	Seizure, Hydrocephalus, Skin rash, Megaloblastic bone marrow	ORPHA:26
Developmental And Epileptic Encephalopathy 14	Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Generalized tonic seizure	OMIM:614959
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:615937
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Immunodeficiency 21	Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical...	OMIM:614172
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop...	ORPHA:398124
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm...	OMIM:619302
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula...	OMIM:235200
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Seizure, Hydrocephalus	ORPHA:2703
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Immunodeficiency 83, Susceptibility To Viral Infections	Seizure, Herpes simplex encephalitis, Gliosis	OMIM:613002
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, CSF pleocytosis, Hepatosple...	ORPHA:158057
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Isovaleric Acidemia	Pancytopenia, Seizure, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Myoclonus, Generalized myoclonic seizure, Thrombocytopenia	OMIM:231000
Transcobalamin Deficiency	Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
1Q21.1 Microduplication Syndrome	Seizure, Hydrocephalus, Hypospadias, Cryptorchidism	ORPHA:250994
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Eczema, Cryptorchidism, Seizure, Aplasia/Hypoplasia of the testes	ORPHA:3055
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Lissencephaly, X-Linked, 2	Seizure, Gliosis, Ambiguous genitalia, Micropenis, Decreased testicular size, Ventriculomegaly	OMIM:300215
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Developmental And Epileptic Encephalopathy 71	Seizure, Gliosis	OMIM:618328
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Seizure, Pancytopenia, Ventriculomegaly	ORPHA:251009
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa...	OMIM:615122
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Hypothyroidism, Acute lymphoblastic leukem...	OMIM:606593
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Absence seizure with eyelid myoclonia, Megaloblastic anemia, Generalized non-motor ...	OMIM:613839
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell count, ...	OMIM:616050
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Pancytopenia, Elevated circulating thyroid-stimulating hormone con...	OMIM:617872
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Eczema, Cryptorchidism, Atopic dermatitis, Recurrent otitis media, Feb...	OMIM:620331
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, Lymphocytosis,...	OMIM:308240
Primary Myelofibrosis	Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leuko...	ORPHA:824
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar...	OMIM:603896
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:618709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Diabetes Insipidus, Neurohypophyseal	Decreased circulating osteocalcin level, Gliosis, Central diabetes insipidus	OMIM:125700
Fanconi-Like Syndrome	Pancytopenia, Osteomyelitis	OMIM:227850
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Generalized ly...	OMIM:618986
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Seizure, Hydrocephalus, Periodontitis	ORPHA:1008
Atypical Teratoid Rhabdoid Tumor	Seizure, Hydrocephalus	ORPHA:99966
Pontocerebellar Hypoplasia, Type 4	Seizure, Gliosis, Myoclonus	OMIM:225753
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count...	OMIM:618394
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ...	ORPHA:507
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus, Gliosis, Ventricul...	ORPHA:168486
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Pruritus, Hypersplenism, Leukocytosis, Thrombocytopenia, H...	ORPHA:98850
Chudley-Mccullough Syndrome	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:604213
Developmental And Epileptic Encephalopathy 36	Infantile spasms, Tonic seizure, Hydrocephalus, Myoclonic seizure, Seizure, Atonic seizure	OMIM:300884
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Seizure, Gliosis, Microphallus, Ventriculomegaly	OMIM:300957
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, CSF pleocytosis, Neutropenia,...	ORPHA:540
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Arthritis, Infert...	ORPHA:465508
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar gliosis, Increased CSF lactate, Seiz...	ORPHA:79243
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Lig4 Syndrome	Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy,...	ORPHA:99812
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Seizure, Hydrocephalus	OMIM:300886
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Seizure, Gliosis, Increased CSF protein concentration, Pneumonia	OMIM:608033
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Myeloid ...	OMIM:614742
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Seizure, Hemophagocytosis, Neutropenia	ORPHA:79477
L-2-Hydroxyglutaric Aciduria	Seizure, Gliosis	OMIM:236792
Intellectual Developmental Disorder, Fra12A Type	Seizure, Erythroderma	OMIM:136630
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut...	ORPHA:486
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features...	OMIM:615400
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased CSF protein concentration, Pancytopenia, Skin rash, Thrombocytopenia, Splenomegaly, CSF...	OMIM:603553
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Omenn Syndrome	Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Eryt...	ORPHA:39041
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hydrocephalus, Megaloblastic bone marrow, Seizure, Increased mea...	ORPHA:2169
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Osteomyelitis, Splenomegaly, Hydrocephalus, Anemia, Seizure, Thrombocytopenia	OMIM:259700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Seizure, G...	ORPHA:457240
Propionic Acidemia	Pancytopenia, Eczema, Thrombocytopenia, Seizure, Neutropenia, Pancreatitis, Anemia	OMIM:606054
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Huntington Disease	Seizure, Gliosis	OMIM:143100
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Diabetes mellitu...	ORPHA:79147
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Seizure, Thrombocytopenia	ORPHA:85212
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphad...	ORPHA:520
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Skin rash, Infantile spasms, Seizure, Gliosis, Myoclonus, Ventriculomegaly	OMIM:618321
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Seizure, Inflammation of the large i...	OMIM:614576
Lesch-Nyhan Syndrome	Megaloblastic anemia, Seizure, Podagra, Testicular atrophy	OMIM:300322
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Gliosis, Myoclonus	OMIM:604218
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath...	OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod...	ORPHA:169154
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint...	ORPHA:139402
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis, Myoclonus, Increased CSF protein concentration, Recurrent aspiration pneum...	ORPHA:204
Combined Oxidative Phosphorylation Deficiency 14	Ventriculomegaly, Myoclonic seizure, Anemia, Seizure, Increased CSF lactate, Gliosis, Myoclonus, ...	OMIM:614946
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Primary hypercortisolism, Elevate...	ORPHA:562
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Micropenis, Seizure, Lateral ventricle dilatation, Status epilepticus, Myoclonus,...	OMIM:619847
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Seizure, Thrombocytopenia	ORPHA:90045
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Pancytopenia, Primary gonadal insufficiency, Goiter	OMIM:210740
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel...	OMIM:619510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Bilateral tonic-clonic seizure, Abnormal lymphocyte count, Absence of lymph node ge...	ORPHA:79124
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Recurrent pneumonia, Seizure, Gliosis, Ventriculomegaly	OMIM:214150
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Seizure, Later...	OMIM:609637
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi...	OMIM:617052
Pityriasis Rubra Pilaris	Pruritus, Pustule, Eczema, Erythroderma	ORPHA:2897
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Lymp...	ORPHA:101096
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:613990
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Thrombocytopenia, Splenomegaly, CSF pleocytosis, Abnormal T cell subset distributio...	ORPHA:158048
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Hypergonadotropic hypogonadism, Seizure, Status epilepticus, Myoclonus, Anemia	OMIM:607426
Primary Non-Essential Cutis Verticis Gyrata	Seizure, Gliosis	ORPHA:357225
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty	ORPHA:141333
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Hypothyroidism	ORPHA:85321
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Copper Deficiency, Familial Benign	Seizure, Anemia, Seborrheic dermatitis	OMIM:121270
Peeling Skin Syndrome 1	Pruritus, Eosinophilia, Erythroderma	OMIM:270300
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus, Lymphadenopathy, Anemia, Seizure, Thrombocytopenia	ORPHA:858
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly...	OMIM:615688
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level	OMIM:617341
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:616553
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Seizure, Lateral ventricle dilatation, Gliosis, Myoclonus	OMIM:221770
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Seizure, Gliosis	OMIM:221820
Diffuse Cutaneous Mastocytosis	Pruritus, Abnormality of the spleen, Abnormal bone marrow cell morphology, Lymphadenopathy, Myelo...	ORPHA:79456
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Gliosis	OMIM:213200
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis	OMIM:619693
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Generalized-onset seizure, Ventriculomegaly, Thromboc...	OMIM:259720
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia...	OMIM:227650
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Gliosis, Myoclonic spas...	OMIM:614498
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Sézary Syndrome	Pruritus, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology	ORPHA:3162
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Hydrocephalus, Hypogonadism, M...	OMIM:300514
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Seizure, Hypoplastic female external genitalia, Ventriculomegaly	OMIM:618577
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Atopic dermatitis, Hypochromic microcytic anemia, Seizure, Gliosis, Thrombocytopenia	ORPHA:3240
Spastic Paraplegia 50, Autosomal Recessive	Seizure, Gliosis, Ventriculomegaly	OMIM:612936
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Infantile spasms, Hydrocephalus, Myoclonic seizure, Seizure, Atonic seizure	OMIM:618174
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp...	ORPHA:2183
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Hypereosinophilia, Chronic rhinitis, Erythr...	OMIM:256500
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope...	OMIM:600901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Seckel Syndrome 1	Pancytopenia, Hypospadias, Cryptorchidism, Seizure, Clitoral hypertrophy	OMIM:210600
Transaldolase Deficiency	Pancytopenia, Clitoral hypertrophy, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Fanconi Anemia, Complementation Group P	Cryptorchidism, Pancytopenia, Anemia	OMIM:613951
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep...	ORPHA:8
Spinocerebellar Ataxia 17	Seizure, Gliosis, Myoclonus	OMIM:607136
Band Heterotopia	Seizure, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Schimke Immunoosseous Dysplasia	Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Elevated circulating thyroid-stimulatin...	OMIM:242900
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Bone mar...	OMIM:227645
Gaucher Disease, Type Iiic	Splenomegaly, Seizure, Pancytopenia, Hydrocephalus	OMIM:231005
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Annular pancreas, Re...	OMIM:227646
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Seizure, Hydrocephalus	OMIM:619470
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Leigh Syndrome	Seizure, Gliosis, Increased CSF lactate	OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro...	ORPHA:167
Frontal Encephalocele	Encephalocele, Seizure, Hydrocephalus, Spina bifida	ORPHA:1931
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Bilateral tonic-clonic seizure, Seizure, Retractile testis, Gliosis, Ventriculom...	OMIM:617193
Alexander Disease	Seizure, Palatal tremor, Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Huntington Disease-Like 1	Seizure, Gliosis, Ventriculomegaly	ORPHA:157941
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Seizure, Inflammation of the ...	OMIM:615895
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Delayed puberty, T...	ORPHA:77259
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis, Anemia	OMIM:277380
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Generalized...	OMIM:615846
Congenital Hydrocephalus	Seizure, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Griscelli Syndrome	Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Hepatitis, Lymphadenopath...	ORPHA:381
Martin-Probst Syndrome	Bifid scrotum, Pancytopenia, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroi...	OMIM:300519
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Thrombocytopenia	OMIM:613845
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia	OMIM:246400
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Hypersplenism, Splenomegaly, Hepatitis, Type I diabetes mellitus, Hypothyroidism, H...	OMIM:613385
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chr...	ORPHA:3260
Congenital Disorder Of Glycosylation, Type If	Seizure, Ventriculomegaly, Erythroderma	OMIM:609180
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Cryptorchidism, Focal motor seizure, Abnormality of the Leydig cells, Myoclonus, Gen...	ORPHA:3063
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Seizure, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Seizure, Ch...	OMIM:609757
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Frontotemporal Dementia With Motor Neuron Disease	Gliosis, Abnormal mitochondrial morphology	ORPHA:275872
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:218350
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Pick Disease Of Brain	Gliosis	OMIM:172700
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Combined Oxidative Phosphorylation Deficiency 24	Seizure, Status epilepticus, Gliosis, Increased CSF lactate	OMIM:616239
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis	OMIM:300857
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:175700
Netherton Syndrome	Seizure, Skin rash, Eczema, Erythroderma	ORPHA:634
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Neutropenia...	ORPHA:228426
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Ventriculomegaly, Bilateral tonic-clonic seizure with generalized onset, Abnormalit...	ORPHA:2072
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr...	OMIM:275350
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Thrombocytopenia	ORPHA:1237
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ventriculomegaly, Seborrheic dermatitis, Splenomegaly, Seizure, Status epilepticus, Myoclonus, As...	OMIM:301072
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Ichthyosis With Confetti	Pruritus, Hypoplastic nipples, Erythroderma	OMIM:609165
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abnormality of the male genitalia, Abnormality of t...	ORPHA:228123
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Seizure, Leukemia, Hydrocephalus, Ventriculomegaly	OMIM:602501
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Infantile Sialic Acid Storage Disease	Splenomegaly, Seizure, Hydrocephalus, Vacuolated lymphocytes	OMIM:269920
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Seizure, Micropenis	ORPHA:171839
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc...	ORPHA:254516
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate	OMIM:604377
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Seizure, Conjunctivitis	OMIM:253260
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Seizure, Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Impotence, Gliosis, Autonomic erectile dysfunction	OMIM:169500
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis	ORPHA:1672
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Anemia, Seizure, Neutropenia, Thrombocytopenia	OMIM:251100
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Temple Syndrome	Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Recurren...	OMIM:616222
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis	OMIM:618369
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Seizure, Colpocephaly, Increased CSF lysine concentration, ...	OMIM:616034
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Krabbe Disease	Seizure, Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Bilateral tonic-clonic seizure, Eczema, Pneumonia, P...	ORPHA:436159
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Familial Acute Necrotizing Encephalopathy	Seizure, Increased CSF protein concentration, Gliosis	ORPHA:88619
Tay-Sachs Disease	Precocious puberty, Typical absence seizure, Hepatosplenomegaly, Seizure, Focal impaired awarenes...	ORPHA:845
Melanosis, Neurocutaneous	Choroid plexus papilloma, Seizure, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Pallister-Hall-Like Syndrome	Occipital encephalocele, Glioma, Hydrocephalus, Focal emotional seizure with crying, Micropenis, ...	OMIM:241800
Whipple Disease	Myositis, Pericarditis, Myocarditis, Splenomegaly, Hypothyroidism, Hydrocephalus, Mediastinal lym...	ORPHA:3452
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gliosis	OMIM:604484
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Seizure, Gliosis, Ventriculomegaly	ORPHA:261652
Nasu-Hakola Disease	Seizure, Hydrocephalus, Ventriculomegaly, Acute leukemia	ORPHA:2770
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Seizure, Ventriculomegaly	OMIM:618667
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis	OMIM:105550
Corpus Callosum, Partial Agenesis Of, X-Linked	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:304100
Neurodegeneration With Brain Iron Accumulation 2A	Seizure, Gliosis	OMIM:256600
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Microcephaly 10, Primary, Autosomal Recessive	Gliosis	OMIM:615095
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Intellectual Developmental Disorder, Autosomal Recessive 68	Seizure, Hydrocephalus	OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea...	ORPHA:699
Fried Syndrome	Hydrocephalus	ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Pachydermoperiostosis	Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Sp...	ORPHA:2796
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Lissencephaly 5	Seizure, Occipital encephalocele, Hydrocephalus	OMIM:615191
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
H Syndrome	Psoriasiform dermatitis, Diabetes mellitus, Microcytic anemia, Hydrocephalus, Bronchiectasis, Ame...	ORPHA:168569
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Le...	OMIM:305000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscul...	OMIM:127550
Intellectual Developmental Disorder, X-Linked 30	Seizure, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Focal Facial Dermal Dysplasia Type Iv	Focal-onset seizure, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu...	OMIM:557000
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Seizure, Hydrocephalus	ORPHA:83473
Optic Pathway Glioma	Precocious puberty, Seizure, Hydrocephalus	ORPHA:2086
Gaucher Disease	Pancytopenia, Osteomyelitis, Bilateral tonic-clonic seizure, Ventriculomegaly, Thrombocytopenia, ...	ORPHA:355
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Neutrophilia, Pancytopenia, Erythema nodosum, Myocarditis, Orchitis, Epididym...	ORPHA:99827
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Eczema, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level,...	ORPHA:96181
Alexander Disease Type I	Seizure, Palatal tremor, Hydrocephalus	ORPHA:363717
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Seizure, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Hydrocephalus, Bronchiec...	ORPHA:244
Trichothiodystrophy	Congenital exfoliative erythroderma, Ventriculomegaly, Generalized-onset seizure, Eczema, Cryptor...	ORPHA:33364
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Menorrhagia, Thrombocytopenia	OMIM:617443
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Decreased CSF albumin concentration, Splenomegaly, Focal tonic seizure, General...	ORPHA:404454
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus, Pneumonia, Asplenia, Absent outer dynein arms, Bro...	OMIM:244400
B4Galt1-Cdg	Inflammatory abnormality of the skin, Splenomegaly, Hydrocephalus, Hypothyroidism, Dandy-Walker m...	ORPHA:79332
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Hydroceph...	ORPHA:53
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula...	ORPHA:99429
Congenital Muscular Dystrophy, Fukuyama Type	Seizure, Hydrocephalus, Ventriculomegaly	ORPHA:272
Leigh Syndrome	Eczema, Infantile spasms, Increased CSF lactate, Seizure, Status epilepticus, Gliosis, Neutropeni...	ORPHA:506
Pontocerebellar Hypoplasia, Type 2A	Seizure, Gliosis	OMIM:277470
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Generalized myoclonic seizure, Thrombocytopenia	ORPHA:77261
Greig Cephalopolysyndactyly Syndrome	Seizure, Hydrocephalus	ORPHA:380
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Seizure, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	ORPHA:85284
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E...	OMIM:615508
Rothmund-Thomson Syndrome	Aplastic anemia, Skin rash, Infertility, Neutropenia, Leukemia, Malar rash, Anemia	ORPHA:2909
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Seizure, Recurrent sinusitis, Chronic oral candi...	OMIM:609029
Harlequin Ichthyosis	Erythroderma	ORPHA:457
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Splenomegaly, Primary adrenal insufficiency, Seizure, Bile duct p...	OMIM:261515
Dubowitz Syndrome	Aplastic anemia, Eczema, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Otitis media	OMIM:223370
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Micropenis, Seizure, Hypoplastic spleen	OMIM:602361
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Pancytopenia, Pneumonia, Hepatosplenomegaly, Otitis media	ORPHA:309282
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule...	ORPHA:77297
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Seizure, Hydrocephalus	OMIM:260500
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Muscle-Eye-Brain Disease	Seizure, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Seizure, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism	OMIM:612938
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Hypogonadism, Erythroderma	OMIM:601675
L1 Syndrome	Aqueductal stenosis, Seizure, Hydrocephalus	ORPHA:275543
Machado-Joseph Disease	Dilated fourth ventricle, Gliosis	OMIM:109150
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Seizure, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Hypogonadism, Neutropenia, Leuk...	ORPHA:221008
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Seizure, Dandy-Walker malformation, Ventriculomegaly	ORPHA:1647
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Hypospadia...	ORPHA:268261
Transketolase Deficiency	Seborrheic dermatitis, Secondary amenorrhea, Uveitis, Conjunctivitis, Type I diabetes mellitus	ORPHA:488618
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Seizure, Myoclonus, Ambiguous genitalia, Micropenis, Ventriculomegaly	OMIM:614969
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Cryptorchidism, Hydrocephalus, Seizure, Dandy-Walker malformation	OMIM:613001
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Seizure, Hypopituitarism,...	ORPHA:90065
Multiple Acyl-Coa Dehydrogenase Deficiency	Seizure, Acute pancreatitis, Gliosis	ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 2	Seizure, Gliosis, Ventriculomegaly	OMIM:618222
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Seizure, Gliosis, Myoclonic spasms, Ventriculomegaly	OMIM:252160
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Degcags Syndrome	Pancytopenia, Ventriculomegaly, Hypospadias, Pneumonia, Congenital hypoplastic anemia, Cryptorchi...	OMIM:619488
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Iridocyclitis, Splenomegaly, Mediastinal lymphadenopat...	OMIM:181000
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma	OMIM:242150
Houge-Janssens Syndrome 1	Seizure, Hydrocephalus, Multifocal seizures, Ventriculomegaly	OMIM:616355
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter...	ORPHA:1926
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Dandy-Walker malformation, Erythroderma	OMIM:302960
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ambiguous genitalia, Ventriculomegaly, Bilateral tonic-clonic seizure, Hypospadias...	OMIM:257300
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Emanuel Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Seizure, Hypogonadism, Infertility, Recurrent ot...	ORPHA:96170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal cerebrospinal fluid morphology, Decreased proportion of C...	ORPHA:217260
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Vitamin K Antagonist Embryofetopathy	Seizure, Myelomeningocele, Hydrocephalus	ORPHA:1914
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Astrocytosis, Status epilepticus, Myoclonus, Bile duct proliferatio...	OMIM:203700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid...	ORPHA:37042
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Acne, Hypospadias, Spina bifida, Seborrheic dermatitis, Cryp...	ORPHA:567
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Gliosis	OMIM:248500
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Seizure, Hypogonadism, Micropenis, Dilated third ventricle, Ventri...	ORPHA:500055
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Secondary hyperpar...	ORPHA:2785
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology	ORPHA:2189
Large Congenital Melanocytic Nevus	Pruritus, Seizure, Hydrocephalus	ORPHA:626
Molybdenum Cofactor Deficiency, Complementation Group A	Seizure, Ventriculomegaly, Gliosis, Myoclonic spasms	OMIM:252150
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Fanconi Anemia, Complementation Group N	Aplastic anemia	OMIM:610832
Thanatophoric Dysplasia	Seizure, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Edinburgh Malformation Syndrome	Seizure, Hydrocephalus	ORPHA:1895
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma	ORPHA:35173
Diets-Jongmans Syndrome	Seizure, Hypospadias, Gliosis, Cryptorchidism	OMIM:618846
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male	ORPHA:2075
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Hogue-Janssen Syndrome 2	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:616362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia...	OMIM:102700
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Ovarian serous cystadenoma, Seborrheic dermatitis	ORPHA:276280
Walker-Warburg Syndrome	Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Seizure, Dandy-Walker malfo...	ORPHA:899
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Cryptorchidism, Hydrocephalus, Micropenis, Leukemia	OMIM:619951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Spina bifida, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopenia, Leukocytos...	OMIM:274000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Seizure, Hydrocephalus	OMIM:617542
Adams-Oliver Syndrome 2	Seizure, Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hydrocephalus, Ventriculomegaly	OMIM:615630
Amelocerebrohypohidrotic Syndrome	Seizure, Hydrocephalus	ORPHA:1946
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hydrocephalus, M...	OMIM:617281
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Cryptorchidism, Neutropenia, Leukemia, Anemia	ORPHA:221016
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Hydrocephalus, Irregular menstruation, Seizure, Uterine leiomyoma, Focal impaired ...	OMIM:616482
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Fanconi Anemia, Complementation Group R	Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Seizure, Hydrocephalus, Hypospadias	ORPHA:2409
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Seizure, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly	OMIM:225790
Trisomy 1Q	Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly	ORPHA:261344
Digeorge Syndrome	Acne, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Seborrheic dermatiti...	OMIM:188400
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:370959
Tenorio Syndrome	Hydrocephalus, Recurrent pneumonia, Seizure, Keratoconjunctivitis sicca, Recurrent aphthous stoma...	OMIM:616260
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Inflammatory abnormality of the eye	ORPHA:93262
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seizure, Seborrheic dermatitis	OMIM:210210
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Small scrotum, Seizure, Bile duct proliferation, Anemia	OMIM:613658
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Tonic seizure, Cryptorchidism, Typical abs...	OMIM:615873
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis, Lateral ventricle dilatation, Gliosis, Generalized myoclonic seizure, Micr...	OMIM:300868
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Congenital Disorder Of Deglycosylation 1	Decreased CSF albumin concentration, Myoclonic seizure, Seizure, Gliosis, Myoclonus, Decreased CS...	OMIM:615273
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla...	ORPHA:2969
Crouzon Syndrome	Keratitis, Hydrocephalus, Seizure, Conjunctivitis, Dysgerminoma	OMIM:123500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Parkinson Disease 1, Autosomal Dominant	Gliosis, Myoclonus	OMIM:168601
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph...	OMIM:220210
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Hydrocepha...	ORPHA:1546
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Eczema, Abnormality of neutrophils, Cryptorchidism, Thrombocytop...	ORPHA:235
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Hydrocephalus, Seizure, Micropenis, Dandy-Walker malformation	OMIM:617822
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypothyroidism, Ventric...	ORPHA:1812
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Cutis Laxa, Autosomal Recessive, Type Iid	Bilateral cryptorchidism, Seizure, Micropenis, Gliosis	OMIM:617403
Progressive Supranuclear Palsy	Gliosis	ORPHA:683
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Seizure, Hydrocephalus, Cholelithiasis	OMIM:614886
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis	ORPHA:280210
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:603387
Oculocerebral Hypopigmentation Syndrome, Preus Type	Seizure, Hydrocephalus, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal...	OMIM:611134
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Seizure, Hydrocephalus, Ventriculomegaly	OMIM:613603
Fg Syndrome Type 1	Hypospadias, Cryptorchidism, Hydrocephalus, Seizure, Small pituitary gland, Ventriculomegaly	ORPHA:93932
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Seizure, Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Papillorenal Syndrome	Seizure, Gliosis	OMIM:120330
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus, Generalized non-motor (absenc...	ORPHA:395
Cockayne Syndrome	Diabetes mellitus, Splenomegaly, Cryptorchidism, Absence of pubertal development, Seizure, Kerato...	ORPHA:191
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Seizure, Hydrocephalus, Tonic seizure	OMIM:615249
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Seizure, Abnormality of the pineal gland, Eczema, Seborrheic dermatitis	ORPHA:369950
Mucopolysaccharidosis, Type Ii	Splenomegaly, Hydrocephalus, Recurrent pneumonia, Hepatosplenomegaly, Seizure, Recurrent otitis m...	OMIM:309900
Desmosterolosis	Splenomegaly, Hydrocephalus, Seizure, Status epilepticus, Ambiguous genitalia, Ventriculomegaly	ORPHA:35107
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation	OMIM:607361
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or...	ORPHA:556
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Seizure, Interstitial pneumonitis, Granulocytopenia, Lympho...	ORPHA:454831
Crouzon Syndrome	Hydrocephalus, Conjunctivitis	ORPHA:207
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Hydrocephalus, Seizure, Dandy-Walker malformation	ORPHA:459061
Intellectual Developmental Disorder, Autosomal Dominant 65	Seizure, Noncommunicating hydrocephalus, Infantile spasms	OMIM:619320
Multiple Sulfatase Deficiency	Splenomegaly, Seizure, Hydrocephalus	ORPHA:585
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Hypospadias, Keratitis, Cryptorchidism, Seizure, Erythroderma,...	OMIM:308205
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Seizure, Colpocephaly, Ventriculomegaly	OMIM:615219
Pseudotrisomy 13 Syndrome	Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosence...	OMIM:264480
Monosomy 18Q	Astrocytoma, Bilateral cryptorchidism, Hydrocephalus, Seizure, Micropenis, Hypothyroidism, Second...	ORPHA:1600
Congenital Sialidosis Type 2	Seizure, Hydrocephalus, Myoclonus, Hepatosplenomegaly	ORPHA:93400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Allergic rhinitis, Eczema, Hydrocephalus, Seizure, ...	OMIM:618162
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Seizure, Leukopenia, Thrombocytopenia	ORPHA:974
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Sex reversal, Micr...	OMIM:612651
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Conjunctivitis, Periodontitis, Nephritis, Dandy-Walker malformation	OMIM:217090
Lhermitte-Duclos Disease	Seizure, Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr...	ORPHA:54595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Seizure, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Seizure	ORPHA:1861
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Hydrocephalus, Abnormal morphology of female internal genitalia	ORPHA:1834
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, Bronchiectasis, Arthritis, Kerat...	ORPHA:99921
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Focal-onset seizure, Hydrocephalus, Seizure, Dandy-Walker malformation, Ventriculomegaly	OMIM:618476
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Vaginal atresia	ORPHA:3301
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Hypocalcemic seiz...	OMIM:612301
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe	ORPHA:1555
3C Syndrome	Hypoplasia of penis, Ventriculomegaly, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Dandy-Walk...	ORPHA:7
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation	ORPHA:314588
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Chronic sinusitis, Bronchiectasis, Chronic rhinitis	OMIM:618699
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Ir...	OMIM:101800
Chromosome 6Pter-P24 Deletion Syndrome	Seizure, Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Meckel Syndrome	Accessory spleen, Encephalocele, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchid...	ORPHA:564
Cerebrotendinous Xanthomatosis	Myelopathy, Seizure, Gliosis, Cholelithiasis, Palatal tremor, Hypothyroidism	ORPHA:909
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Ventriculomegaly With Cystic Kidney Disease	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:219730
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Peho Syndrome	Seizure, Hydrocephalus, Ventriculomegaly, Infantile spasms	ORPHA:2836
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl...	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Meningoencephalocele, Hydrocephalus, S...	OMIM:236670
1Q44 Microdeletion Syndrome	Hydrocephalus, Bilateral tonic-clonic seizure, Ventriculomegaly	ORPHA:238769
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu...	ORPHA:2166
Glutaric Acidemia I	Seizure, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Thanatophoric Dysplasia Type 1	Seizure, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Cerebral Visual Impairment	Seizure, Hydrocephalus, Infectious encephalitis	ORPHA:447788
Joubert Syndrome With Oculorenal Defect	Encephalocele, Seizure, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis	ORPHA:2318
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Gliosis, Hypothyroidism, B...	ORPHA:506358
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Joubert Syndrome With Renal Defect	Encephalocele, Seizure, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis	ORPHA:220497
Joubert Syndrome	Encephalocele, Seizure, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis	ORPHA:475
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Hypospadias, Spina bifida, Abnormal...	ORPHA:84
Icf Syndrome	Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils	ORPHA:2268
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Seizure, Colpocephaly, Chordee, ...	OMIM:309801
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Diabetes mellitus, Abnormality of the spleen, Cryptorchidism,...	ORPHA:2162
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Seizure, Stomatocy...	ORPHA:168577
Aymé-Gripp Syndrome	Pericarditis, Cryptorchidism, Hydrocephalus, Seizure, Febrile seizure (within the age range of 3 ...	ORPHA:1272
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology	ORPHA:3412
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
1Q21.1 Microdeletion Syndrome	Seizure, Hydrocephalus, Cryptorchidism	ORPHA:250989
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ...	ORPHA:722
Holoprosencephaly 14	Ventriculomegaly, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, ...	OMIM:619895
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Seizure, Hypoplastic male externa...	OMIM:608091
Joubert Syndrome With Ocular Defect	Encephalocele, Seizure, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis	ORPHA:220493
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Czeizel-Losonci Syndrome	Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta	ORPHA:2437
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Splenomegaly, Hydrocephalus, Seizure, Abnormality of the hypothalamus-pi...	ORPHA:1454
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Seizure, Hypogonadism, Anemia	ORPHA:3042
Koolen-De Vries Syndrome Due To A Point Mutation	Generalized-onset seizure, Hypospadias, Eczema, Testicular neoplasm, Decreased response to growth...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Generalized-onset seizure, Hypospadias, Eczema, Testicular neoplasm, Decreased response to growth...	ORPHA:363958
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele	OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Dextrocardia	Abnormal reproductive system morphology, Abnormality of the spleen, Hydrocephalus, Pancreatic hyp...	ORPHA:1666
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Anemia, Micropenis, Thrombocytopenia	ORPHA:163979
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Rhombencephalosynapsis	Hydrocephalus, Abnormality of the uterus, Ventriculomegaly	ORPHA:59315
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Desmosterolosis	Hydrocephalus, Ambiguous genitalia, female, Seizure, Ambiguous genitalia, male, Ventriculomegaly	OMIM:602398
Apert Syndrome	Acne, Cryptorchidism, Hydrocephalus, Chronic otitis media, Vaginal atresia, Ventriculomegaly	OMIM:101200
Neurofibromatosis, Type I	Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Seizure, Pheochromocytoma, Parathy...	OMIM:162200
7Q11.23 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Seizure, Aplasia/Hypoplasia of the fallopian tube, Ch...	ORPHA:96121
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hydrocephalus, Seizure, Neutropenia, Thrombocytopenia	OMIM:277400
Alexander Disease	Diabetes mellitus, Precocious puberty, Hypothyroidism, Aqueductal stenosis, Hydrocephalus, Seizur...	ORPHA:58
Trisomy 17P	Hypoplasia of penis, Hydrocephalus	ORPHA:261290
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Seizure, Hydrocephalus, Atopic dermatitis	OMIM:115150
Kabuki Syndrome 1	Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Premature thelarche, Autoimmun...	OMIM:147920
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Cryptorchidism, Hydrocephalus...	OMIM:619512
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida	ORPHA:2839
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, External g...	OMIM:249000
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Hereditary Late-Onset Parkinson Disease	Gliosis	ORPHA:411602
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Ambiguous genitalia, Small scrotum, Hypospadias, Eczema, Septate vagina, Precociou...	OMIM:270400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Seizure, Gliosis, Cholangitis	OMIM:124000
Osteootohepatoenteric Syndrome	Pruritus, Hydrocephalus, Anemia	OMIM:619377
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anenceph...	OMIM:612284
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Seizure, Hydrocephalus	ORPHA:93259
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Opitz-Kaveggia Syndrome	Seizure, Hydrocephalus, Hypospadias, Cryptorchidism	OMIM:305450
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, Hydrocephal...	ORPHA:2356
Tetrasomy 5P	Seizure, Hydrocephalus	ORPHA:3309
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Leukocytosis, Hypoplasia of the ovary, Micropenis, Decreased testicular size	OMIM:619321
Dural Sinus Malformation	Myelopathy, Seizure, Hydrocephalus	ORPHA:97339
Neurofibromatosis Type 1	Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Hydrocephal...	ORPHA:636
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Seizure, Hydrocephalus, Holoprosencephaly	OMIM:253800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Seizure, Hydrocephalus	OMIM:239300
Oeis Complex	Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Mye...	OMIM:258040
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Infantile spasms, Seizure, Subependymal nodules, Ventriculomegaly	ORPHA:25
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Hepatosplenomegaly, Anemia, Leukopenia, Conjunctivitis, Bone marrow hypocellularit...	ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Hypospadias, Increased CSF lactate, Seizure, Gliosis	OMIM:220111
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Infantile spasms, Megaloblastic anemia, Hydrocephalus, Seizure, Neutropenia, Stomatitis, Thromboc...	ORPHA:79282
Fanconi Anemia, Complementation Group L	Hydrocephalus, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Anemia	OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Hurler Syndrome	Recurrent otitis media, Splenomegaly, Hydrocephalus, Hepatosplenomegaly	OMIM:607014
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Seizure, Ven...	ORPHA:2322
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Hydrocephalus, Seizure, Hypoplastic male external genitalia, Dan...	OMIM:605627
Rabin-Pappas Syndrome	Seizure, Hydrocephalus	OMIM:620155
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Seizure, Hydrocephalus	OMIM:618590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Seizure, Hydrocephalus, Ventriculomegaly	OMIM:613150
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven...	OMIM:123790
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora	OMIM:207410
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Mend Syndrome	Seizure, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism	ORPHA:401973
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Ambiguous genit...	OMIM:269860
Mucopolysaccharidosis Type 1	Chronic otitis media, Splenomegaly, Hydrocephalus, Sinusitis	ORPHA:579
Mend Syndrome	Seizure, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism	OMIM:300960
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Splenomegaly, Hydrocephalus	OMIM:253220
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectovaginal fistula, Perineal fistula	ORPHA:3016
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Seizure, Lateral ventricle dilatation, Recurrent otitis media, Dilated third ventr...	OMIM:619575
Trisomy 8P	Cryptorchidism, Hydrocephalus, Annular pancreas, Seizure, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:264450
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Cryptorch...	OMIM:620305
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hydrocephalus, Seizure	ORPHA:157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Focal-onset seizure, Seizure, Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Ovarian cyst, Splenic cyst, Ventriculomegaly	OMIM:618188
Full Nf2-Related Schwannomatosis	Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma, Seizure	ORPHA:637
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:228308
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Hydrocephalus, Seizure, Cervical myelopathy	OMIM:253200
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Tuberous Sclerosis Complex	Epileptic spasm, Infantile spasms, Focal-onset seizure, Pancreatic endocrine tumor, Pituitary ade...	ORPHA:805
Mucopolysaccharidosis Type 3	Splenomegaly, Hydrocephalus, Seizure, Otitis media, Aspiration pneumonia, Chronic otitis media, V...	ORPHA:581
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:1340
Cockayne Syndrome A	Splenomegaly, Cryptorchidism, Irregular menstruation, Seizure, Thymic hormone decreased, Hypogona...	OMIM:216400
Monosomy 9Q22.3	Seizure, Hydrocephalus, Ovarian fibroma, Ventriculomegaly	ORPHA:77301
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Keratoconjunctivitis sicca, Hydrocephalus	OMIM:616914
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Recurrent aspirati...	OMIM:602535
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Se...	ORPHA:2556
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal tra...	ORPHA:322
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Hydrocephalus, Keratoconjunctivitis sicca, Decreased response to g...	OMIM:616007
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Seizure, Aplasia of the vagina, Aplasia of the uterus, Ventriculomegaly	ORPHA:457284
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Hurler Syndrome	Splenomegaly, Hydrocephalus, Rhinitis	ORPHA:93473
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Skin rash	ORPHA:220295
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Cryptorchidism, Epispadias, ...	ORPHA:2658
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus	ORPHA:2736
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Seizure, Holoprosencephaly, Occ...	OMIM:610828
Tetrasomy 9P	Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Hydrocephalus, Oligozoospermia, Arthr...	ORPHA:3310
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly	OMIM:616546
Achondroplasia	Hydrocephalus	ORPHA:15
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
15Q Overgrowth Syndrome	Seizure, Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Ventriculomegaly, Osteomyelitis, Hypospadias, Infantile spasms, Clonic seizure, Fo...	OMIM:619475
Fraser Syndrome 1	Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Seizure, Abnormal th...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Medulloblastoma	Hydrocephalus, Abnormal bone marrow cell morphology	ORPHA:616
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hydrocephalus, Lymphadenopathy, Chronic rhinitis, Otitis media, Anemia	ORPHA:667
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly	ORPHA:2462
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Distal 22Q11.2 Microduplication Syndrome	Seizure, Hydrocephalus, Cryptorchidism	ORPHA:261337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Lymphangioleiomyomatosis	Seizure, Hydrocephalus, Abnormal morphology of female internal genitalia, Lymphadenopathy	ORPHA:538
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Hydrocephalus	ORPHA:221120
Sturge-Weber Syndrome	Seizure, Hydrocephalus	ORPHA:3205
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Adrenal gla...	OMIM:273395
Achondroplasia	Recurrent otitis media, Hydrocephalus	OMIM:100800
Stromme Syndrome	Accessory spleen, Hydrocephalus	OMIM:243605
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hypospadias, Hydrocephalus	ORPHA:90652
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Hypospadias	OMIM:313850
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Hydrocephalus	OMIM:617667
Cockayne Syndrome B	Splenomegaly, Cryptorchidism, Seizure, Normal pressure hydrocephalus, Micropenis	OMIM:133540
Supranuclear Palsy, Progressive, 2	Gliosis	OMIM:609454
Orofaciodigital Syndrome I	Pancreatic cysts, Myelomeningocele, Hydrocephalus, Seizure, Ovarian cyst	OMIM:311200
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Seizure, Aplasi...	OMIM:194190
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess	OMIM:600145
Hajdu-Cheney Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:102500
Isotretinoin-Like Syndrome	Hydrocephalus, Lymphopenia	ORPHA:2306
Hajdu-Cheney Syndrome	Hypospadias, Splenomegaly, Hydrocephalus, Periodontitis, Delayed puberty	ORPHA:955
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Knobloch Syndrome	Seizure, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida	OMIM:109400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Absent nipple	OMIM:104350
Histiocytoid Cardiomyopathy	Seizure, Hydrocephalus, Polycystic ovaries	ORPHA:137675
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Seizure, Hydrocephalus	ORPHA:536467
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Osteopathia Striata With Cranial Sclerosis	Seizure, Hydrocephalus, Spina bifida occulta	OMIM:300373
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Hydrocephalus, Seizure, Lateral ventricle dilatation, Colpocephaly, Status epilep...	OMIM:210710
Capillary Malformation-Arteriovenous Malformation	Seizure, Hydrocephalus	ORPHA:137667
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Hypoplasti...	OMIM:612289
Thakker-Donnai Syndrome	Communicating hydrocephalus, Rectovaginal fistula	ORPHA:1780
Mohr Syndrome	Hydrocephalus	OMIM:252100
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus	ORPHA:1106
Wiedemann-Rautenstrauch Syndrome	Hyperthyroidism, Recurrent skin infections, Hypogonadotropic hypogonadism, Decreased response to ...	ORPHA:3455
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Seizure	OMIM:114290
Chromosome 1P36 Deletion Syndrome, Distal	Epileptic spasm, Abnormal external genitalia, Hypospadias, Infantile spasms, Cryptorchidism, Hydr...	OMIM:607872
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Pneumonia, Cryptorchidism, Hydrocephalus, Long penis, Hypoplasia of the thymus, Incr...	OMIM:264090
Marden-Walker Syndrome	Abnormal penis morphology, Epispadias, Hydrocephalus, Hypospadias	ORPHA:2461
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Glycogen Storage Disease Of Heart, Lethal Congenital	Seizure, Hydrocephalus	OMIM:261740
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Polysplenia	OMIM:306955
Raine Syndrome	Hydrocephalus	OMIM:259775
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Bicornuate uterus	OMIM:154400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Seizure, Ventriculomegaly	OMIM:617011
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet...	OMIM:619841
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Bilateral tonic-clonic seizure, Ventriculomegaly	ORPHA:457359
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Hydrocephalus, Seizure, Granuloma, Optic nerve glioma	ORPHA:363700
Osteogenesis Imperfecta	Ventriculomegaly, Osteoarthritis, Hydrocephalus, Noncommunicating hydrocephalus, Thrombocytopenia	ORPHA:666
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Micropenis, Clitoral hypert...	ORPHA:3472
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Hypoplasia of the uterus, ...	ORPHA:709
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop...	OMIM:261540
Focal Dermal Hypoplasia	Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Hypop...	OMIM:305600
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Seizure, Communicating hydrocephalus, Splenomegaly	ORPHA:580
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R...	OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Seizure, Hydrocephalus, Myoclonus, Ventriculomegaly	OMIM:253280
Coffin-Siris Syndrome 12	Hypospadias, Cryptorchidism, Noncommunicating hydrocephalus, Seizure, Hypothyroidism	OMIM:619325
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Severe hydroc...	OMIM:236680
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	ORPHA:2369
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, ...	OMIM:268300
Baller-Gerold Syndrome	Hydrocephalus, Perineal fistula, Seizure, Rectovaginal fistula, Spina bifida occulta	OMIM:218600
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Hydrocephalus, Pancreatic islet-...	OMIM:312870
Split Cord Malformation	Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep...	ORPHA:573278
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Focal-onset seizure, Seizure, Hydrocephalus, Hemolytic anemia	OMIM:175780
Dyskeratosis Congenita	Neoplasm of the pancreas, Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Spleno...	ORPHA:1775
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida	OMIM:304120
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydrocephalus, Seizure, Lateral...	OMIM:619534
Costello Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:218040
Loeys-Dietz Syndrome 1	Hydrocephalus, Eosinophilic infiltration of the esophagus	OMIM:609192
Loeys-Dietz Syndrome 2	Hydrocephalus, Eosinophilic infiltration of the esophagus	OMIM:610168
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ventriculomegaly, Anemia, Bone marrow hypocellularity, Thrombocyto...	ORPHA:3322
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 Tinf2

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 Tinf2.

No publications found that use IMPC mice or data for Tinf2.

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
Tinf2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tinf2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tinf2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Tinf2^{tm1e(EUCOMM)Hmgu}	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

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