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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

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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 Dorso Ventral

43 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 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
Ventriculomegaly, Nasal polyposis, Nasal congestion, Chronic rhinitis, Hydrocephalus 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
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Hydrocephalus OMIM:209970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Gómez-López-Hernández Syndrome
Short stature, Anteverted nares, Hydrocephalus ORPHA:1532
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Congenital Hydrocephalus
Bulbous nose, Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Hydrocephalus... OMIM:618577
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Developmental And Epileptic Encephalopathy 36
Anteverted nares, Hydrocephalus OMIM:300884
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice OMIM:620010
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Intrauterine growth retardation, CSF lymphocytic pleiocytosis, Hydrocephalus, C... OMIM:610333
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Kleeblattschaedel
Hydrocephalus OMIM:148800
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus ORPHA:83473
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Myelomeningocele, Anteverted nares, Intrauterine growth ... ORPHA:1914
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Short stature, Hydrocephalus, Underdeveloped nasal alae ORPHA:1516
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Hydrocephalus, Wide nasal bridge OMIM:616521
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short stature, Short nose OMIM:300558
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hydrocephalus OMIM:618302
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Fried Syndrome
Hydrocephalus ORPHA:85335
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Short stature,... OMIM:300863
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker ... OMIM:220220
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... OMIM:616034
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Prominent nose, Anteverted nares, Hydroc... ORPHA:2180
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventriculomegaly, Hydrocephalus OMIM:602501
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Anteverted nares, Hydrocephalus, Short nose ORPHA:2701
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Occipital encephalocele, Hydrocephalus, Short stature, Short nose OMIM:241800
Congenital Toxoplasmosis
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Hydrocephalus OMIM:618174
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Temple Syndrome
Depressed nasal bridge, Anteverted nares, Intrauterine growth retardation, Hydrocephalus, Short s... OMIM:616222
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Thick nasal alae, Hydrocephalus, Short nose, Dandy-Walker malformation ORPHA:163961
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hydrocephalus ORPHA:2183
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Ventriculomegaly, Encephalocele, Hydrocephalus, Short stature, Holoprosen... ORPHA:93274
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Short stature,... ORPHA:163966
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Hydrocephalus, Convex nasal ridge, Growth delay ORPHA:85284
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Temple Syndrome
Short stature, Postnatal growth retardation, Hydrocephalus ORPHA:254516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Short columella, Hydrocephalus, Short nose ORPHA:171839
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Hydrocephalus ORPHA:2635
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Craniofacial Dyssynostosis With Short Stature
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Hydrocephalus, Short nose ORPHA:1895
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Agenesis of corpus callosum, ... OMIM:225790
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus ORPHA:272
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephal... ORPHA:1908
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Ventriculomegaly, Intrauterine growth retardation, Choanal stenosis OMIM:620183
Thanatophoric Dysplasia
Depressed nasal bridge, Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine... ORPHA:2655
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Tracheoesophageal fistula, Hydrocephalus, Holoprosencephaly, Growth ... ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Houge-Janssens Syndrome 2
Ventriculomegaly, Anteverted nares, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Communicating hydrocephalus, Wide nose ORPHA:2184
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Williams-Beuren Region Duplication Syndrome
Short stature, Ventriculomegaly, Broad nasal tip, Hydrocephalus OMIM:609757
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocep... OMIM:619833
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Hydrolethalus
Abnormality of the sense of smell, Agenesis of corpus callosum, Tracheal atresia, Hydrocephalus, ... ORPHA:2189
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus OMIM:269920
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hydrocephalus, Convex nasal ridge ORPHA:93262
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Keutel Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Short s... ORPHA:85202
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Rhombencephalosynapsis
Ventriculomegaly, Anteverted nares, Tracheoesophageal fistula, Hydrocephalus, Short nose ORPHA:59315
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay OMIM:620156
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Depressed nasal bridge, Anteverted nares, Communicating hydrocephalus ORPHA:1064
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Intellectual Developmental Disorder, Autosomal Dominant 65
Wide nasal bridge, Bulbous nose, Anteverted nares, Agenesis of corpus callosum, Noncommunicating ... OMIM:619320
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Broad nasal tip, Hydrocephalus, Low hanging columella OMIM:620157
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Crouzon Syndrome
Choanal atresia, Hydrocephalus, Convex nasal ridge ORPHA:207
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Ventriculomegaly, Postnatal growth retardation, Anteverted nares, Intraut... OMIM:257300
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Amelocerebrohypohidrotic Syndrome
Short stature, Hydrocephalus ORPHA:1946
Fraser Syndrome 3
Tracheal atresia, Hydrocephalus, Convex nasal ridge, Stillbirth, Wide nose OMIM:617667
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Bulbous nose, Communicating hydrocephalus ORPHA:1237
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Agenesis of corpus callosum, Hydrocephalus, Short stature, Dandy-Walker m... ORPHA:459061
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Wa... OMIM:611134
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Intrauterine growth retardation, Agenesis of corpus callosum, Narrow nasal ridge, H... OMIM:612940
Houge-Janssens Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus OMIM:616355
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
1Q44 Microdeletion Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Short stature, Growth delay ORPHA:238769
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Postnatal growth retardation, Hydroc... ORPHA:7
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Proboscis, Anteverted nares, Hydrocephalus, Aqueducta... OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Anteverted nares, Hydrocephalus, Short sta... OMIM:272200
Thakker-Donnai Syndrome
Bulbous nose, Anteverted nares, Intrauterine growth retardation, Agenesis of corpus callosum, Tra... ORPHA:1780
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Hydrocephalus, Short stature, Growth delay OMIM:614886
Trisomy 17P
Thick nasal alae, Intrauterine growth retardation, Prominent nose, Hydrocephalus, Short stature, ... ORPHA:261290
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Achondroplasia
Depressed nasal bridge, Rhizomelia, Disproportionate short stature, Anteverted nares, Hydrocephal... ORPHA:15
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Tracheal stenosis, Aplasia/Hypoplasia involving the nose, Agenesis of corpus callosum ORPHA:3301
Jung Syndrome
Wide nasal bridge, Depressed nasal bridge, Tracheal stenosis ORPHA:2321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Oxoglutaric Aciduria
Short stature, Hydrocephalus ORPHA:31
Lowry-Maclean Syndrome
Choanal atresia, Intrauterine growth retardation, Hydrocephalus, Convex nasal ridge, Growth delay... ORPHA:2409
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Holoprosencephaly, Alobar holoprosencephaly, Semilob... OMIM:610828
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Ventriculomegaly, Hydrocephalus OMIM:615630
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Agenesis of corpus callosum,... ORPHA:370959
B4Galt1-Cdg
Wide nasal bridge, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Anteverted nares, Agenesis of corp... OMIM:612863
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:2169
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Growth delay, Dandy-Walker malformation OMIM:601427
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Wolman Disease
Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis OMIM:618699
Tetrasomy 5P
Wide nasal bridge, Postnatal growth retardation, Anteverted nares, Hydrocephalus, Short nose ORPHA:3309
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Trisomy 1Q
Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Wide nose ORPHA:261344
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hydrocephalus, Short nose OMIM:101600
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Multiple Sulfatase Deficiency
Short stature, Depressed nasal bridge, Anteverted nares, Hydrocephalus ORPHA:585
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Desmosterolosis
Severe short stature, Depressed nasal bridge, Ventriculomegaly, Abnormality of the nose, Intraute... ORPHA:35107
Joubert Syndrome With Renal Defect
Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis of corpus callosum, Hydrocephalus ORPHA:220497
Desmosterolosis
Rhizomelia, Hypoplastic nasal bridge, Ventriculomegaly, Anteverted nares, Hydrocephalus, Partial ... OMIM:602398
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Intrauterine growth retardation, Tracheoesophageal fistula, Hydrocephalus, Grow... OMIM:300514
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Neonatal death OMIM:601612
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malform... OMIM:617281
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Anteverted nares, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Laurin-Sandrow Syndrome
Depressed nasal ridge, Abnormality of the nose, Underdeveloped nasal alae, Prominent nose, Short ... ORPHA:2378
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus, Absent outer dynein arms OMIM:244400
Joubert Syndrome 14
Prominent nasal bridge, Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker mal... OMIM:614424
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventriculomegaly, Hydrocephalus ORPHA:60040
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Hydrocephalus OMIM:613330
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Hydrocephalus, Dandy-Walker malformat... OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Short nose ORPHA:1812
Pettigrew Syndrome
Ventriculomegaly, Prominent nose, Hydrocephalus, Aqueductal stenosis, Dandy-Walker malformation OMIM:304340
Cerebrooculonasal Syndrome
Ventriculomegaly, Proboscis, Postnatal growth retardation, Anteverted nares, Prominent nasal brid... OMIM:605627
Plasminogen Deficiency, Type I
Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Dandy-Walker malfo... OMIM:217090
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja... ORPHA:90033
Emanuel Syndrome
Ventriculomegaly, Intrauterine growth retardation, Recurrent sinusitis, Hydrocephalus, Low hangin... OMIM:609029
Emanuel Syndrome
Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, Hydrocephalus, Lo... ORPHA:96170
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Lethal short-limbed short stature ORPHA:1860
Nephronophthisis 18
Hydrocephalus OMIM:615862
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malforma... OMIM:618476
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Hydrocephalus OMIM:616294
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Stromme Syndrome
Wide nasal bridge, Short columella, Prominent nasal bridge, Agenesis of corpus callosum, Hydrocep... OMIM:243605
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Joubert Syndrome With Ocular Defect
Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis of corpus callosum, Hydrocephalus ORPHA:220493
Beare-Stevenson Cutis Gyrata Syndrome
Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Anteverted nares, Prominent nasal brid... OMIM:123790
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Depressed nasal bridge, Rhizomelia, Disproportionate short stature, Neonata... OMIM:616482
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Tenorio Syndrome
Ventriculomegaly, Anteverted nares, Hydrocephalus, Wide nose OMIM:616260
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Hydrocephalus, Neonatal death OMIM:314390
Thanatophoric Dysplasia, Type I
Disproportionate short-limb short stature, Hydrocephalus, Lethal short-limbed short stature, Neon... OMIM:187600
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Primary Ciliary Dyskinesia
Ventriculomegaly, Nasal polyposis, Nasal congestion, Chronic rhinitis, Hydrocephalus ORPHA:244
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Aqueductal stenosis, Short nose ORPHA:93259
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Broad nasal tip, Disproportionate short-limb short stature, Anteverted na... OMIM:101800
Hemangioblastoma
Hydrocephalus ORPHA:252054
Albers-Schönberg Osteopetrosis
Short stature, Hydrocephalus ORPHA:53
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Intrauterine growth retardation, Growth delay, Hydrocephalus OMIM:614576
Genitopalatocardiac Syndrome
Wide nasal bridge, Intrauterine growth retardation, Hydrocephalus ORPHA:2075
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Icf Syndrome
Short stature, Depressed nasal bridge, Communicating hydrocephalus ORPHA:2268
Triploidy
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:3376
Marfanoid-Progeroid-Lipodystrophy Syndrome
Narrow nose, Intrauterine growth retardation, Prominent nasal bridge, Narrow nasal ridge, Hydroce... OMIM:616914
Peho Syndrome
Ventriculomegaly, Anteverted nares, Hydrocephalus, Short nose ORPHA:2836
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Ventriculomegaly, Postnatal growth retardation, Tracheal stenosis, Concave nasal ridg... OMIM:302960
Joubert Syndrome With Oculorenal Defect
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus ORPHA:2318
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Wide nasal bridge, Ventriculomegaly, Disproportionate short stature, Underdeveloped nasal alae, I... ORPHA:2637
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Griscelli Syndrome
Short stature, Encephalocele, Hydrocephalus ORPHA:381
Axial Mesodermal Dysplasia Spectrum
Short stature, Tracheoesophageal fistula, Hydrocephalus ORPHA:1834
Pontocerebellar Hypoplasia, Type 7
Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Hydrocephalus OMIM:614969
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Ventriculomegaly, Agenesis of corpus callosum, Hydroceph... ORPHA:87
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Bulbous nose, Intrauterine growth retardation, Agenesis of corpus callosum, Hy... ORPHA:250989
Joubert Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Mycophenolate Mofetil Embryopathy
Bifid nose, Tracheoesophageal fistula, Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Isotretinoin-Like Syndrome
Postnatal growth retardation, Anteverted nares, Hydrocephalus, Intrauterine growth retardation ORPHA:2306
Arachnoiditis
Hydrocephalus ORPHA:137817
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Nasal congestion, Thick nasal alae, Postnatal growth reta... ORPHA:79345
Geleophysic Dysplasia 3
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Tracheal stenosis, Sho... OMIM:617809
Orofaciodigital Syndrome Ii
Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hydrocephalus, Short stature OMIM:252100
Rabin-Pappas Syndrome
Wide nasal bridge, Broad nasal tip, Hydrocephalus, Low hanging columella OMIM:620155
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Prominent nasal bridge, Hydrocephalus OMIM:619951
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Ventriculomegaly, Short columella, Hydrocephalus, Short nose OMIM:613603
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hydrocephalus OMIM:207410
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:603387
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Broad nasal tip, Hydrocephalus, Short nose OMIM:239300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Encephalocele, Hydrocephalus, Severe short stature ORPHA:1865
Fg Syndrome Type 1
Choanal atresia, Ventriculomegaly, Prominent nose, Hydrocephalus, Short stature ORPHA:93932
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Intrauterine growth retardation, Depressed nasal tip, Tracheoesophageal fistul... OMIM:614083
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Hydroc... ORPHA:2839
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Hydrocephalus, Short nose OMIM:618590
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hydrocephalus OMIM:601499
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Short stature, Growth delay, Sh... OMIM:616007
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Encephalocele, Neonatal short-limb short stature, Hydrocephalus OMIM:224400
Hurler-Scheie Syndrome
Short stature, Depressed nasal bridge, Tracheal stenosis, Growth delay OMIM:607015
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Hydrocephalus, Shor... OMIM:607014
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Depressed nasal bridge, Choanal atresia, Anteverted nares, Hydrocephalus ORPHA:1555
Monosomy 18Q
Depressed nasal bridge, Bulbous nose, Prominent nose, Choanal stenosis, Hydrocephalus, Short stat... ORPHA:1600
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Neonatal death, Choanal stenosis, Hydrocephalus, Short s... OMIM:259775
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:899
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Ventriculomegaly, Depressed nasal tip, Agenesis of corpus callosum, Hydrocepha... OMIM:612651
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Bulbous nose, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Sp... OMIM:613776
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Proteus-Like Syndrome
Anteverted nares, Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Achondroplasia
Depressed nasal bridge, Rhizomelia, Neonatal short-limb short stature, Choanal stenosis, Hydrocep... OMIM:100800
Mucopolysaccharidosis Type 1
Depressed nasal bridge, Thick nasal alae, Abnormal nasal morphology, Hydrocephalus, Short stature ORPHA:579
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short stature, Rhinit... ORPHA:93473
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Sho... OMIM:619575
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Chronic rhinitis due to narrow nasal airway OMIM:259710
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Aqueduct... ORPHA:3412
Crouzon Syndrome
Deviated nasal septum, Hydrocephalus OMIM:123500
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy... OMIM:611881
Craniopharyngioma
Postnatal growth retardation, Proportionate short stature, Delayed puberty, Abnormal nasal bone m... ORPHA:54595
Gracile Bone Dysplasia
Short stature, Hydrocephalus OMIM:602361
Muenke Syndrome
Hydrocephalus ORPHA:53271
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Splenomegaly OMIM:612918
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Underdeveloped nasal alae, Tracheal stenosis, Hydrocephalus, Overhanging nasal t... ORPHA:163979
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Hydrocephalus OMIM:104350
Mucopolysaccharidosis, Type Vii
Severe short stature, Recurrent upper respiratory tract infections, Postnatal growth retardation,... OMIM:253220
Congenital Myopathy 22A, Classic
Wide nasal bridge, Neonatal death, Normal pressure hydrocephalus OMIM:620351
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus, Short nasal bridge OMIM:130720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Mucopolysaccharidosis, Type Ii
Severe short stature, Hydrocephalus, Short stature, Mild short stature OMIM:309900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Tracheal stenosis, Anteverted nares, Agenesis of corpus callosum, Short nose OMIM:217980
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Communicating hydr... OMIM:618188
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Hypomandibular Faciocranial Dysostosis