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Gene: Trip6 MGI:1343458

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Gene Summary

Name:
thyroid hormone receptor interactor 6
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Trip6tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal cranium morphology Trip6tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-07
hydrocephaly Trip6tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased respiratory quotient Trip6tm1b(EUCOMM)Hmgu HOM Early adult 1.25×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Trip6 mutations

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

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

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

The table below shows human diseases predicted to be associated to Trip6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Kleeblattschaedel
Hydrocephalus OMIM:148800
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Fried Syndrome
Hydrocephalus ORPHA:85335
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250994
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Nephronophthisis 18
Hydrocephalus OMIM:615862
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Hemangioblastoma
Hydrocephalus ORPHA:252054
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Arachnoiditis
Hydrocephalus ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:171839
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn... ORPHA:79243
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:370959
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation OMIM:610015
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Muenke Syndrome
Hydrocephalus ORPHA:53271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Crouzon Syndrome
Hydrocephalus ORPHA:207
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Hydrolethalus
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619895
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism ORPHA:1926
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
47,Xyy Syndrome
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Trisomy 1Q
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:899
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:614969
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... OMIM:614643
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:96170
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms OMIM:244400
Crouzon Syndrome
Hydrocephalus OMIM:123500
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia ORPHA:91348
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus OMIM:619951
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:602398
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Achondroplasia
Hydrocephalus ORPHA:15
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:253800
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:2409
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Trisomy 17P
Hydrocephalus ORPHA:261290
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation OMIM:619847
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate ORPHA:565624
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... OMIM:257300
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:93932
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Dextrocardia
Hydrocephalus ORPHA:1666
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... OMIM:236670
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1555
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Meningocele, Colpocephaly, Lateral ventricle ... ORPHA:397715
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Mirage Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:617053
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Whipple Disease
Hydrocephalus ORPHA:3452
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Medulloblastoma
Hydrocephalus ORPHA:616
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen... OMIM:620305
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:243605
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum ORPHA:300570
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Mohr Syndrome
Hydrocephalus OMIM:252100
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third... ORPHA:544488
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation ORPHA:263487
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Achondroplasia
Hydrocephalus OMIM:100800
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
H Syndrome
Azoospermia, Hydrocephalus, Decreased testicular size ORPHA:168569
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus OMIM:101800
Hurler Syndrome
Hydrocephalus OMIM:607014
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus ORPHA:1600
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele ORPHA:90652
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Agen... OMIM:619512
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:147791
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Hurler Syndrome
Hydrocephalus ORPHA:93473
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:96121
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc... ORPHA:228123
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Craniopharyngioma
Hydrocephalus ORPHA:54595
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly OMIM:610829
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker ... ORPHA:2162
Raine Syndrome
Hydrocephalus OMIM:259775
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Da... OMIM:249000
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus c... OMIM:618820
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... OMIM:602535
Cryptococcosis
Hydrocephalus ORPHA:1546
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:2322
Dubowitz Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta ORPHA:235
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cryptorchidism, Colpocephaly OMIM:620083
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Colpocephaly, Agenesis of corpus callosum OMIM:614866
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... OMIM:304050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Trisomy 8P
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus ORPHA:163979
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum OMIM:311200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly ORPHA:477993
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Koolen-De Vries Syndrome Due To A Point Mutation
Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:363958
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Decreased testicular size OMIM:619321
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Abnormal testis morphology, Absent test... ORPHA:84
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Ventriculomegaly ORPHA:2072
Oeis Complex
Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:258040
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:3042
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele OMIM:306955
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Colpocephaly, Holoprosenc... OMIM:270400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Oligozoospermia ORPHA:95699
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Lateral ventricle dilatat... OMIM:210710
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele ORPHA:573278
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93924
Cockayne Syndrome A
Cryptorchidism, Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele ORPHA:567
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Meningioma
Hydrocephalus ORPHA:2495
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:219000
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormal testis morphology, Agenesis of corpus callosum ORPHA:2556
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus ORPHA:636
Kabuki Syndrome 1
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Cockayne Syndrome B
Cryptorchidism, Normal pressure hydrocephalus OMIM:133540
Hydrolethalus Syndrome 1
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus OMIM:236680
Fontaine Progeroid Syndrome
Cryptorchidism, Hydrocephalus OMIM:612289
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Oligozoospermia ORPHA:3310
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Yunis-Varon Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3472
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:607872
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum OMIM:218600
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cryptorchidism, Agenesis of corpus callosum, Mild fetal ventriculome... OMIM:619841
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Cryptorchidism, Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Cryptorchidism, Abnormal lateral ventricle morphology ORPHA:353277
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:261540
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Spina bifida OMIM:304120
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:107480
Genitopatellar Syndrome
Cryptorchidism, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Coffin-Siris Syndrome 12
Cryptorchidism, Noncommunicating hydrocephalus OMIM:619325
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum OMIM:312870
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum 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 Trip6

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 Trip6.

No publications found that use IMPC mice or data for Trip6.

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
Trip6tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Trip6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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