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Gene: Ccno MGI:2145534

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Gene Summary

Name:
cyclin O
Synonyms:
Ung2,  Ccnu

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 Ccnoem1(IMPC)Mbp HET Early adult 0.00
small kidney Ccnoem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Ccnoem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Ccnoem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

43 Images

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Human diseases caused by Ccno mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Nasal polyposis, Hydrocephalus, Nasal congestion, Chronic rhinitis, Ventriculomegaly ORPHA:244
Ciliary Dyskinesia, Primary, 29
OMIM:615872

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria OMIM:602079
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Masa Syndrome
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:303350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Gómez-López-Hernández Syndrome
Anteverted nares, Short stature, Hydrocephalus ORPHA:1532
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice ORPHA:79238
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Anteverted nares OMIM:300884
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpus callosum, Vent... OMIM:618577
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Aicardi-Goutieres Syndrome 4
Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Convex nasal ridge,... OMIM:610333
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Intra... ORPHA:1914
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1516
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short stature, Prominent nasal bridge, Hydrocephalus, Short nose OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge ORPHA:380
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Dandy-Walker ... OMIM:220220
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Fried Syndrome
Hydrocephalus ORPHA:85335
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... OMIM:300863
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Short nose, Thick nasal alae, Dandy-Walker malformation ORPHA:163961
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Hydrocephalus, Wide nasal... ORPHA:2180
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Ventriculomegaly OMIM:602501
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature OMIM:618174
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Congenital Toxoplasmosis
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:858
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Short stature, Hydrocephalus, Short nose OMIM:241800
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Temple Syndrome
Wide nose, Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Intrauterine g... OMIM:616222
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Hydrocephalus, Short nose ORPHA:2701
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Short stature, Hydrocephalus, Holoprosencephaly, Ventricul... ORPHA:93274
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly OMIM:175700
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... ORPHA:163966
Bresek Syndrome
Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Convex nasal ridge ORPHA:85284
Metatropic Dysplasia
Hydrocephalus, Severe short stature, Depressed nasal bridge ORPHA:2635
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature ORPHA:254516
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short columella, Short nose ORPHA:171839
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Depressed nasal ridge, Short stature ORPHA:1861
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Edinburgh Malformation Syndrome
Hydrocephalus, Short nose, Anteverted nares, Choanal atresia ORPHA:1895
Craniofacial Dyssynostosis With Short Stature
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:218350
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Agene... OMIM:225790
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:109120
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal ... ORPHA:1908
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Thanatophoric Dysplasia
Depressed nasal bridge, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine gr... ORPHA:2655
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Hogue-Janssen Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anteverted nares, Ventriculomegaly OMIM:616362
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Tracheoesophageal fistula, Growth delay, Holoprosencephaly, Agenesis of corpus cal... ORPHA:77298
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Adams-Oliver Syndrome 2
Bulbous nose, Depressed nasal bridge, Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardati... OMIM:619833
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Short stature, Ventriculomegaly, Broad nasal tip OMIM:609757
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus ORPHA:2184
Hydrolethalus
Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis of corpus callosum, Trach... ORPHA:2189
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Convex nasal ridge, Choanal atresia ORPHA:93262
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares OMIM:269920
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malfo... OMIM:208540
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Bulbous nose, Hydrocephalus, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Rhombencephalosynapsis
Anteverted nares, Hydrocephalus, Tracheoesophageal fistula, Short nose, Ventriculomegaly ORPHA:59315
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90037
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Low hanging columella, Wide nasal bridge, Broad nasal tip OMIM:620157
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Noncommunicating hydrocephalus, Wide nasal bridge, Agenesis of co... OMIM:619320
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Anteverted nares, Short stature, Depressed nasal bridge ORPHA:1064
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Crouzon Syndrome
Hydrocephalus, Convex nasal ridge, Choanal atresia ORPHA:207
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation OMIM:220210
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Ventriculomegaly, Anteverted nares, Short stature, Depressed nasal bridge, Postnatal g... OMIM:257300
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... OMIM:611134
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Short stature, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker m... ORPHA:459061
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:616355
Fraser Syndrome 3
Wide nose, Convex nasal ridge, Hydrocephalus, Stillbirth, Tracheal atresia OMIM:617667
1Q44 Microdeletion Syndrome
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Bulbous nose, Hydrocephalus, Intrauterine growth retardation, Agenesis of cor... OMIM:612940
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge ORPHA:1237
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
3C Syndrome
Ventriculomegaly, Depressed nasal bridge, Short stature, Postnatal growth retardation, Hydrocepha... ORPHA:7
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Holoprosencephaly 14
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hyd... OMIM:619895
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Trisomy 17P
Wide nose, Short stature, Prominent nose, Hydrocephalus, Growth delay, Intrauterine growth retard... ORPHA:261290
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Intrauter... ORPHA:1780
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Prominent nose, Hydrocephalus, Wide nasal bridge, Growth delay OMIM:614886
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Aplasia/Hypoplasia involving the nose, Agenesis of corpus callosum, Hydrocephalus ORPHA:3301
Multiple Sulfatase Deficiency
Anteverted nares, Short stature, Hydrocephalus, Increased CSF protein concentration, Ventriculome... OMIM:272200
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Short stature, Ventriculomegaly OMIM:615630
Lowry-Maclean Syndrome
Choanal atresia, Hydrocephalus, Growth delay, Intrauterine growth retardation, Short nose, Short ... ORPHA:2409
Achondroplasia
Anteverted nares, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short statu... ORPHA:15
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Chromosome 6Q24-Q25 Deletion Syndrome
Anteverted nares, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth ... OMIM:612863
Gorlin Syndrome
Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:370959
B4Galt1-Cdg
Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation ORPHA:79332
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:2169
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Trisomy 1Q
Wide nose, Depressed nasal bridge, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Holoprosencephaly 7
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum... OMIM:610828
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose OMIM:101600
Joubert Syndrome With Renal Defect
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Desmosterolosis
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Growth dela... ORPHA:35107
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Hydrocephalus, Anteverted nares, Dandy-Walker malformation OMIM:612938
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Hydrocephalus, Partial agenesis of the co... OMIM:602398
Tetrasomy 5P
Anteverted nares, Postnatal growth retardation, Hydrocephalus, Wide nasal bridge, Short nose ORPHA:3309
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Developmental And Epileptic Encephalopathy 49
Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculom... OMIM:617281
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Fanconi Anemia, Complementation Group B
Hydrocephalus, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Ventricu... OMIM:300514
Multiple Sulfatase Deficiency
Anteverted nares, Short stature, Hydrocephalus, Depressed nasal bridge ORPHA:585
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis OMIM:618699
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Joubert Syndrome 14
Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker mal... OMIM:614424
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Depressed nasa... ORPHA:2378
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Ventriculomegaly ORPHA:60040
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Disproportionate short-trunk short stature OMIM:613330
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short nose, Dandy-Walk... OMIM:617822
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hydrocephalus, Short nose, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Proboscis, Postnatal g... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Pettigrew Syndrome
Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Lethal short-limbed short stature, Hydrocephalus, Ventriculomegaly ORPHA:1860
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Bulbous nose, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculome... OMIM:618476
Nephronophthisis 18
Hydrocephalus OMIM:615862
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Recurrent sinusitis, Intrauterine growth retardation, Dandy-Walk... OMIM:609029
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Growth delay, Intrauterine growth retardation, Agenesis of corpu... ORPHA:96170
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... OMIM:217090
Joubert Syndrome With Ocular Defect
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Stromme Syndrome
Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella, Stillbirth, Agenesis o... OMIM:243605
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short s... OMIM:616482
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Tenorio Syndrome
Wide nose, Anteverted nares, Hydrocephalus, Ventriculomegaly OMIM:616260
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature ORPHA:53
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... OMIM:187600
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation OMIM:612582
Hemangioblastoma
Hydrocephalus ORPHA:252054
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus, Tracheoesophageal fistula OMIM:314390
Beare-Stevenson Cutis Gyrata Syndrome
Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal bridge, Hydrocephalus,... OMIM:123790
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Congenital Disorder Of Glycosylation, Type Iil
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:614576
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose ORPHA:93259
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Hydrocephalus, Wide nasal bridge ORPHA:2075
Primary Ciliary Dyskinesia
Nasal polyposis, Hydrocephalus, Nasal congestion, Chronic rhinitis, Ventriculomegaly ORPHA:244
Acrodysostosis 1 With Or Without Hormone Resistance
Anteverted nares, Mild postnatal growth retardation, Short stature, Depressed nasal bridge, Broad... OMIM:101800
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Intraut... OMIM:616914
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Spina bifida occulta ORPHA:2437
Peho Syndrome
Short nose, Anteverted nares, Hydrocephalus, Ventriculomegaly ORPHA:2836
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge ORPHA:2318
Griscelli Syndrome
Encephalocele, Hydrocephalus, Short stature ORPHA:381
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Short stature ORPHA:2268
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Wide nasal bridge, Ventriculomegaly, Broad nasal tip OMIM:614969
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Agenesis of corpus callosum, Convex nasal... ORPHA:87
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Short stature, Tracheoesophageal fistula ORPHA:1834
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Joubert Syndrome
Encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge ORPHA:475
Arachnoiditis
Hydrocephalus ORPHA:137817
1Q21.1 Microdeletion Syndrome
Short stature, Bulbous nose, Hydrocephalus, Wide nasal bridge, Intrauterine growth retardation, A... ORPHA:250989
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Mycophenolate Mofetil Embryopathy
Bifid nose, Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula ORPHA:268249
Mohr Syndrome
Depressed nasal bridge, Short stature, Broad nasal tip, Bifid nasal tip, Hydrocephalus OMIM:252100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Wide nasal bridge, Short columella, Short nose, Ventriculomegaly OMIM:613603
Rabin-Pappas Syndrome
Hydrocephalus, Low hanging columella, Wide nasal bridge, Broad nasal tip OMIM:620155
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Fg Syndrome Type 1
Short stature, Choanal atresia, Prominent nose, Hydrocephalus, Ventriculomegaly ORPHA:93932
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Depressed nasal bridge, Hydrocephalus OMIM:618590
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Short nose, Wide nasal bridge, Broad nasal tip OMIM:239300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Severe short stature, Wide nasal bridge ORPHA:1865
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Depressed nasal bridge, Prominent nasal bridge OMIM:619951
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Wide nasal bridge OMIM:601499
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen... OMIM:232220
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Anteverted nares ORPHA:2306
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Hydrocephalus, Growth delay, Sh... OMIM:616007
Fanconi Anemia, Complementation Group L
Hydrocephalus, Wide nasal bridge, Tracheoesophageal fistula, Depressed nasal tip, Growth delay, I... OMIM:614083
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Depressed nasal bridge, Choanal stenosis, Choanal atresia OMIM:207410
Hurler Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nas... OMIM:607014
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus OMIM:224400
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Walker-Warburg Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Monosomy 18Q
Depressed nasal bridge, Short stature, Prominent nose, Bulbous nose, Hydrocephalus, Growth delay,... ORPHA:1600
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Depressed nasal bridge, Anteverted nares, Choanal atresia ORPHA:1555
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Holoprosencephaly, Agenesis of corpus call... OMIM:612651
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Anteverted nares ORPHA:2969
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, Bulbous nose, Hyd... OMIM:613776
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Hurler Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Growth... ORPHA:93473
Muenke Syndrome
Hydrocephalus ORPHA:53271
Raine Syndrome
Depressed nasal bridge, Short stature, Choanal atresia, Hydrocephalus, Choanal stenosis, Neonatal... OMIM:259775
Craniopharyngioma
Abnormal nasal bone morphology, Proportionate short stature, Postnatal growth retardation, Hydroc... ORPHA:54595
Familial Tumoral Calcinosis
Nephrocalcinosis, Hepatomegaly, Splenomegaly ORPHA:53715
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia OMIM:612918
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... OMIM:610199
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tracheoesophageal fistula, Intrauterine growth ... ORPHA:3412
Gracile Bone Dysplasia
Hydrocephalus, Short stature OMIM:602361
Achondroplasia
Depressed nasal bridge, Rhizomelia, Hydrocephalus, Choanal stenosis, Neonatal short-limb short st... OMIM:100800
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Short stature, Hydrocephalus, Lateral ventricle dilatation, Dilated third... OMIM:619575
Crouzon Syndrome
Hydrocephalus, Deviated nasal septum OMIM:123500
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Short stature, Hydrocephalus OMIM:613686
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Short stature, Ventriculomegaly ORPHA:500055
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge OMIM:104350
Mucopolysaccharidosis Type 1
Depressed nasal bridge, Short stature, Abnormal nasal morphology, Hydrocephalus, Thick nasal alae ORPHA:579
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Choanal atresia, Underdeveloped nasal alae, Hydrocephalus, Tracheal stenosis, Over... ORPHA:163979
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent upper... OMIM:253220
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Lateral Meningocele Syndrome
Hydrocephalus, Short nasal bridge, Short stature, Meningocele OMIM:130720
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus, Wide nasal bridge OMIM:620351
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short n... OMIM:618188
15Q Overgrowth Syndrome
Hydrocephalus, Wide nasal bridge, Intrauterine growth retardation, Agenesis of corpus callosum, D... ORPHA:314585
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
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
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... OMIM:276700
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Short stature, Depressed nasal bridge, Bulbous nose, Hydrocephalus, Short nose OMIM:115150
Mucopolysaccharidosis, Type Ii
Mild short stature, Hydrocephalus, Severe short stature, Short stature OMIM:309900
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Rhizomelic arm shortening, Choanal stenos... OMIM:101200
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Depressed nasal bridge OMIM:608091
Holoprosencephaly
Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Hydrocep... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:253800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus, Partia... ORPHA:300570
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:264480
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Holoprosencephaly, Intrauterine growth r... OMIM:147791
Aymé-Gripp Syndrome
Depressed nasal bridge, Short stature, Postnatal growth retardation, Hydrocephalus, Short nose, V... ORPHA:1272
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly OMIM:259720
Opitz-Kaveggia Syndrome
Short stature, Choanal atresia, Prominent nose, Hydrocephalus, Partial agenesis of the corpus cal... OMIM:305450
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly OMIM:616546
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus ... OMIM:620305
Distal Triplication 15Q
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Hydrolethalus Syndrome 1
Anencephaly, Stillbirth, Bifid nose, Midline defect of the nose, Severe hydrocephalus, Tracheal s... OMIM:236680
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge ORPHA:1454
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Narrow nasal ridge, Aqueductal stenosis, Bulbous nose, Hydrocephalus, Partial agenesis of the cor... OMIM:619512
Cardiofaciocutaneous Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Short nose ORPHA:1340
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Marshall-Smith Syndrome
Anteverted nares, Short stature, Choanal atresia, Depressed nasal bridge, Hydrocephalus, Recurren... OMIM:602535
Mirage Syndrome
Intrauterine growth retardation, Hydrocephalus, Short stature OMIM:617053
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Holoprosencephaly 9
Depressed nasal bridge, Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Si... OMIM:610829
Functioning Gonadotropic Adenoma
Hydrocephalus, Delayed puberty ORPHA:91348
H Syndrome
Short stature, Recurrent pharyngitis, Hydrocephalus, Chronic rhinitis, Delayed puberty ORPHA:168569
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Agenesis of corpus callosum, Hydrocephalus, Anteverted nares, Ventriculomegaly ORPHA:457284
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus ORPHA:168577
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Dubowitz Syndrome
Depressed nasal bridge, Short stature, Postnatal growth retardation, Hydrocephalus, Intrauterine ... ORPHA:235
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Postnatal growth retardation, Bu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Postnatal growth retardation, Bu... ORPHA:363958
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal bridge OMIM:245600
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Postnatal growth retardation, Hydrocephalus, Short nose ORPHA:536467
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intrauterine growth retardation OMIM:269860
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Rhizomelia, Allergic rhinitis OMIM:618162
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Agenesis... OMIM:236670
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Short nose ORPHA:90652
7Q11.23 Microduplication Syndrome
Short stature, Broad nasal tip, Hydrocephalus, Growth delay, Abnormal columella morphology, Ventr... ORPHA:96121
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Mucopolysaccharidosis, Type Vi
Depressed nasal bridge, Short stature, Hydrocephalus, Recurrent upper respiratory tract infection... OMIM:253200
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Recurrent upper respiratory tract infect... ORPHA:264450
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Orofaciodigital Syndrome I
Short stature, Underdeveloped nasal alae, Hydrocephalus, Myelomeningocele, Wide nasal bridge, Age... OMIM:311200
Mend Syndrome
Short stature, Prominent nasal bridge, Hydrocephalus, Abnormal nasal bridge morphology, Dandy-Wal... ORPHA:401973
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Hydrocephalus, Short stature, Tracheoesophageal fistula OMIM:227646
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Mend Syndrome
Short stature, Prominent nasal bridge, Hydrocephalus, Bulbous nose, Dandy-Walker malformation OMIM:300960
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Hydrocephalus, Short stature, Colpocephaly OMIM:309801
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Osteopathia Striata With Cranial Sclerosis
Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Wide nasal bridge, Spina b... OMIM:300373
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature ORPHA:220295
Monosomy 9Q22.3
Short nose, Hydrocephalus, Ventriculomegaly ORPHA:77301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia OMIM:260660
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hydrocephalus, Intrauterine growth retardation, Short nose, Convex nasal ridge OMIM:619321
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Absent nares, Holoprosencephaly ORPHA:2166
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge ORPHA:1571
Whipple Disease
Hydrocephalus ORPHA:3452
Semilobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... ORPHA:93924
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, Bulbous nose, Hydrocephalus, Stillbirth, Choanal stenosi... ORPHA:95699
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Prominent nose, Hydrocephalus, Disproportionate short stature, Partial agenesis... OMIM:210710
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... ORPHA:2369
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Anteverted nares OMIM:182212
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal alae, Myel... OMIM:219000
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Short stature, Hydrocephalus, Wide nasal bridge, Delayed puberty ORPHA:955
Marden-Walker Syndrome
Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Agenesis of c... ORPHA:2461
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Smith-Lemli-Opitz Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Partial agenesis of the c... OMIM:270400
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Short stature, Hydrocephalus OMIM:102500
Fanconi Anemia
Short stature, Choanal atresia, Spina bifida, Hydrocephalus, Tracheoesophageal fistula, Growth de... ORPHA:84
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Severe short stature, Agenesis of corpus callosum, Choanal atresia ORPHA:2658
Kabuki Syndrome
Hydrocephalus, Short columella, Short stature, Ventriculomegaly ORPHA:2322
Basal Cell Nevus Syndrome 1
Hydrocephalus, Wide nasal bridge, Spina bifida OMIM:109400
Wolf-Hirschhorn Syndrome
Short stature, Hydrocephalus, Wide nasal bridge, Growth delay, Severe postnatal growth retardatio... OMIM:194190
Peters Plus Syndrome
Rhizomelia, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retardation... ORPHA:709
Cockayne Syndrome A
Slender nose, Short stature, Prominent nose, Severe postnatal growth retardation, Normal pressure... OMIM:216400
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Short stature, Prominent nasal bridge OMIM:154400
Mucopolysaccharidosis Type 3
Hydrocephalus, Thick nasal alae, Ventriculomegaly, Adenoiditis ORPHA:581
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Bulbous nose, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Delayed pu... OMIM:619475
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Hydrocephalus ORPHA:505248
22Q11.2 Deletion Syndrome
Short stature, Prominent nasal bridge, Choanal atresia, Spina bifida, Bulbous nose, Hydrocephalus... ORPHA:567
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Ventriculomegaly ORPHA:2462
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Meckel Syndrome
Encephalocele, Hydrocephalus, Depressed nasal ridge, Anencephaly, Lobar holoprosencephaly, Dandy-... ORPHA:564
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Dextrocardia
Hydrocephalus ORPHA:1666
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Anteverted nares, Short stature, Prominent nasal bridge, Depressed n... OMIM:619841
Campomelic Dysplasia
Depressed nasal bridge, Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections... OMIM:114290
Kabuki Syndrome 1
Short stature, Postnatal growth retardation, Hydrocephalus, Wide nasal bridge, Depressed nasal ti... OMIM:147920
Baller-Gerold Syndrome
Severe short stature, Short stature, Prominent nasal bridge, Underdeveloped nasal alae, Hydroceph... OMIM:218600
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Medulloblastoma
Hydrocephalus ORPHA:616
Distal 22Q11.2 Microduplication Syndrome
Bulbous nose, Wide nose, Depressed nasal ridge, Hydrocephalus ORPHA:261337
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Severe short stature, Hydrocephalus, Wide nasal bridge, Growth delay, Agenesis of corp... ORPHA:2556
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Intrauterine growth retardation, Hydrocephalus ORPHA:79282
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Epistaxis ORPHA:137667
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly OMIM:617011
Cockayne Syndrome B
Slender nose, Severe short stature, Prominent nasal bridge, Postnatal growth retardation, Normal ... OMIM:133540
Wiedemann-Rautenstrauch Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Narrow nasal ridge, Hydrocephalus, Intra... OMIM:264090
Fetal Akinesia Deformation Sequence 1
Intrauterine growth retardation, Hydrocephalus, Stillbirth, Depressed nasal tip OMIM:208150
Fontaine Progeroid Syndrome
Depressed nasal bridge, Short stature, Hydrocephalus, Neonatal death, Intrauterine growth retarda... OMIM:612289
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... ORPHA:228123
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Tetraamelia Syndrome 1
Hydrocephalus, Single naris, Choanal atresia OMIM:273395
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Pseudoaminopterin Syndrome
Hydrocephalus, Short stature, Prominent nasal bridge ORPHA:221120
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Short stature, Hydrocephalus ORPHA:1106
Yunis-Varon Syndrome
Narrow nasal base, Anteverted nares, Short stature, Postnatal growth retardation, Hydrocephalus, ... ORPHA:3472
Osteogenesis Imperfecta
Rhizomelia, Short stature, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, Intrauter... ORPHA:666
Costello Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Ventriculomegaly OMIM:218040
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Coffin-Siris Syndrome 12
Anteverted nares, Short stature, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped n... OMIM:619325
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Growth delay, Delayed puberty, Ventriculomegaly ORPHA:2072
Focal Dermal Hypoplasia
Narrow nasal bridge, Cleft ala nasi, Short stature, Broad nasal tip, Hydrocephalus, Myelomeningoc... OMIM:305600
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus, Chronic rhinitis ORPHA:667
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Wide nose, Short stature, Recurrent upper respiratory tract infectio... ORPHA:580
Gaucher Disease
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty ORPHA:355
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly ORPHA:457359
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus,... OMIM:304120
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal bridge, Hydrocephalus, Depressed nasal ridge, Wide nasal bridge, Growth delay, La... OMIM:607872
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Depressed nasal bridge ORPHA:309282
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Short nasal bridge, Ventriculomegaly OMIM:253280
Cryptococcosis
Hydrocephalus ORPHA:1546
Tetrasomy 9P
Bulbous nose, Hydrocephalus, Intrauterine growth retardation, Convex nasal ridge, Dandy-Walker ma... ORPHA:3310
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Wiedemann-Rautenstrauch Syndrome
Short stature, Wide nasal ridge, Anteverted nares, Hydrocephalus, Growth delay, Severe intrauteri... ORPHA:3455
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Meningioma
Hydrocephalus, Abnormality of the sense of smell ORPHA:2495
Roberts-Sc Phocomelia Syndrome
Underdeveloped nasal alae, Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Wi... OMIM:268300
Peters-Plus Syndrome
Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, D... OMIM:261540
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Neurofibromatosis Type 1
Hydrocephalus, Short stature, Delayed puberty ORPHA:636
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Aqueductal stenosis, Hydrocephalus, Late... OMIM:619534
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Short stature ORPHA:3042
Simpson-Golabi-Behmel Syndrome, Type 1
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis ... OMIM:312870
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Choanal atresia, Tracheoesophageal fistula OMIM:107480
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Short stature ORPHA:363700
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Ciliary Dyskinesia, Primary, 29
OMIM:615872

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 Ccno

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 Ccno.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons. Developmental cell (June 2023) Ccnotm1.1(KOMP)Vlcg 37321213
Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice. Development (Cambridge, England) (April 2019) Ccnotm1.1(KOMP)Vlcg 30936178
Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility. Oncotarget (October 2017) Ccnotm1(KOMP)Vlcg PMC5725090
Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells. The EMBO journal (February 2015) Ccnotm1c(EUCOMM)Wtsi Ccnotm1a(EUCOMM)Wtsi Ccnotm1d(EUCOMM)Wtsi Ccnotm1b(EUCOMM)Wtsi PMC4406653

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
Ccnoem1(IMPC)Mbp Whole-gene deletion Mice
Ccnotm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccnotm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ccnotm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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