Gene Summary

Name:
coiled-coil domain containing 40
Synonyms:
B930008I02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ccdc40 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 Ccdc40 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccdc40 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... OMIM:613807
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic s... OMIM:618699
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Dextrocardia
Situs inversus totalis, Hydrocephalus, Abnormal pulmonary situs morphology, Abnormality of the pu... ORPHA:1666
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation ORPHA:945
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Isomerism, Hydrocephalus OMIM:314390
Developmental And Epileptic Encephalopathy 36
Anteverted nares, Hydrocephalus OMIM:300884
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Situs inversus t... ORPHA:244
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Renpenning Syndrome
Prominent nose, Heterotaxy ORPHA:3242
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:617281
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus ORPHA:1532
Double Outlet Right Ventricle
Pulmonary artery atresia, Heterotaxy, Depressed nasal bridge ORPHA:3426
Kleeblattschaedel
Hydrocephalus OMIM:148800
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose OMIM:304340
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus, Bulbous nose ORPHA:2185
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Chronic sinusitis,... OMIM:244400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Holoprosencephaly, Spinal dysraphism, Anencephaly, Wide nasal bridge, Men... ORPHA:1908
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Recurrent respiratory infections, Heterotaxy ORPHA:1330
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Craniofacial Dyssynostosis
Umbilical hernia, Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1516
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Achondroplasia
Hydrocephalus, Depressed nasal bridge OMIM:100800
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Wide nasal bridge, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:600991
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery hypoplasia, Pulmonary artery atresia, Total anomalous pu... OMIM:616749
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Heterotaxy, Visceral, 6, Autosomal
Abdominal situs inversus OMIM:614779
Fried Syndrome
Hydrocephalus ORPHA:85335
Pallister-Hall-Like Syndrome
Short nose, Pulmonary hypoplasia, Hydrocephalus, Depressed nasal bridge OMIM:241800
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed nasal bridge ORPHA:2635
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Temple Syndrome
Anteverted nares, Hydrocephalus, Wide nose, Depressed nasal bridge OMIM:616222
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Depressed ... OMIM:220220
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Abdominal situs inversus OMIM:617205
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia, Wide nasal bridge ORPHA:380
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Ventriculomegaly, Wide nasal bridge, Anteverted nares, Hydrocephalus OMIM:618577
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Depressed nasal bridge OMIM:602501
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed na... ORPHA:93274
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Umbilical hernia, Laryngomalacia, Anteverted nares, Hydrocephalus, Depressed nasal br... ORPHA:171839
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Hydrocephalus, Wide nasal bridge OMIM:613603
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Chromosome 17P13.1 Deletion Syndrome
Prominent nasal bridge, Anteverted nares, Hydrocephalus OMIM:613776
Thanatophoric Dysplasia
Ventriculomegaly, Pulmonary hypoplasia, Hydrocephalus, Depressed nasal bridge ORPHA:2655
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs inversus OMIM:270100
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Myelomeningocele, Anteverted nares, Hydrocephalus, Depressed nasal b... ORPHA:1914
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Wide nasal bridge, Prominent nose, Anteverted nares, Hydrocephalus, Depressed nasal... ORPHA:2180
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Umbilical hernia, Wide nasal bridge OMIM:175700
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Diets-Jongmans Syndrome
Heterotaxy, Umbilical hernia, Broad nasal tip OMIM:618846
Mental Retardation, Buenos Aires Type
Prominent nose, Hydrocephalus, Wide nasal bridge OMIM:249630
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Abnormal axonemal org... OMIM:613808
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Hydrocephalus, Anteverted nares ORPHA:1895
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus ORPHA:2183
Joubert Syndrome
Prominent nasal bridge, Situs inversus totalis, Hydrocephalus, Anteverted nares ORPHA:475
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Hydrocephalus ORPHA:2701
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Mend Syndrome
Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus OMIM:269920
Vacterl Association With Hydrocephalus
Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Communicating hydrocephalus, Wide nose ORPHA:2184
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Anteverted nares, Hydrocephalus OMIM:616362
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Bulbous nose OMIM:612940
Lissencephaly 5
Hydrocephalus OMIM:615191
Colonic Atresia
Abdominal situs inversus ORPHA:1198
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hydrocephalus ORPHA:93262
Central Precocious Puberty
Hydrocephalus ORPHA:759
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Situs inversus totalis, Left atrial isomerism OMIM:605376
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Hydrocephalus, Anencephaly OMIM:612284
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Aplasia/Hypoplasia... ORPHA:3301
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Czeizel-Losonci Syndrome
Spina bifida, Pulmonary hypoplasia, Spina bifida occulta, Tracheoesophageal fistula, Myelomeningo... ORPHA:2437
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Crouzon Disease
Choanal atresia, Hydrocephalus ORPHA:207
Joubert Syndrome 14
Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Hydrolethalus
Arrhinencephaly, Tracheal atresia, Anencephaly, Laryngomalacia, Hydrocephalus ORPHA:2189
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge OMIM:220210
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Diabetic Embryopathy
Abnormality of the pulmonary artery, Spinal dysraphism, Hydrocephalus ORPHA:1926
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Gorlin Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:377
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Hydrocephalus OMIM:300863
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed nasal bridge ORPHA:1860
3C Syndrome
Short nose, Ventriculomegaly, Recurrent respiratory infections, Wide nasal bridge, Hydrocephalus,... ORPHA:7
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Bulbous nose OMIM:615219
Coach Syndrome 2
Hydrocephalus OMIM:619111
Temple Syndrome
Hydrocephalus ORPHA:254516
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Pfeiffer Syndrome
Short nose, Choanal atresia, Cartilaginous trachea, Bronchomalacia, Hydrocephalus, Depressed nasa... OMIM:101600
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Anteverted nares, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Nephronophthisis 18
Hydrocephalus OMIM:615862
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Pulmonary artery atresi... OMIM:208530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Depressed nasal bridge ORPHA:60040
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Pneumonia, Aqueductal stenosis, Meningocele, Myelomeningocele, Hydrocephalus ORPHA:1136
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus, Broad nasal tip OMIM:609757
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Plasminogen Deficiency, Type I
Abnormality of the larynx, Hydrocephalus, Dandy-Walker malformation, Recurrent upper respiratory ... OMIM:217090
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge ORPHA:1237
Rhombencephalosynapsis
Short nose, Hydrocephalus, Ventriculomegaly, Anteverted nares, Tracheoesophageal fistula ORPHA:59315
Peho Syndrome
Short nose, Hydrocephalus, Ventriculomegaly, Anteverted nares, Recurrent respiratory infections ORPHA:2836
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Tracheoesophageal fistula, Hydrocephalus, Abnormal lung lobation OMIM:300514
Pfeiffer Syndrome Type 2
Short nose, Choanal atresia, Tracheomalacia, Aqueductal stenosis, Laryngomalacia, Hydrocephalus, ... ORPHA:93259
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Hydrocephalus ORPHA:1834
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Alkuraya-Kucinskas Syndrome
Short nose, Ventriculomegaly, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:617822
Tenorio Syndrome
Ventriculomegaly, Pneumonia, Anteverted nares, Hydrocephalus, Wide nose OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Hydrocephalus, Wide nasal bridge OMIM:614886
Fanconi Anemia, Complementation Group L
Tracheoesophageal fistula, Hydrocephalus, Wide nasal bridge, Depressed nasal bridge OMIM:614083
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Tetrasomy 5P
Short nose, Recurrent respiratory infections, Wide nasal bridge, Pulmonary hypoplasia, Anteverted... ORPHA:3309
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Hydrocephalus ORPHA:163966
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Anteverted nares, Hydrocephalus OMIM:272200
Trisomy 1Q
Ventriculomegaly, Hydrocephalus, Wide nose, Depressed nasal bridge ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Noncommunicating hydrocephalus, Wide nasal bridge OMIM:619320
Proteus-Like Syndrome
Bronchogenic cyst, Communicating hydrocephalus, Hydrocephalus, Anteverted nares ORPHA:2969
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Depressed nasal bridge OMIM:616482
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hec Syndrome
Communicating hydrocephalus, Abnormality of the pharynx ORPHA:2119
Popov-Chang syndrome
Long nose, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:618428
Emanuel Syndrome
Ventriculomegaly, Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Icf Syndrome
Recurrent respiratory infections, Communicating hydrocephalus, Umbilical hernia, Depressed nasal ... ORPHA:2268
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Tracheoesophageal fistula, Hydrocephalus ORPHA:77298
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Umbilical hernia, Wide nasal bridge OMIM:601499
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Vacterl With Hydrocephalus
Spina bifida, Hydrocephalus, Arrhinencephaly, Aqueductal stenosis, Pulmonary hypoplasia, Tracheoe... ORPHA:3412
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Hydrocephalus, Short nose ORPHA:2409
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus, Umbilical hernia ORPHA:93400
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge ORPHA:459061
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hemangioblastoma
Hydrocephalus ORPHA:252054
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Hydrocephalus, Depressed nasal... OMIM:259775
Hurler Syndrome
Hydrocephalus, Umbilical hernia, Broad nasal tip, Anteverted nares, Recurrent respiratory infecti... OMIM:607014
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Anteverted nares, Communicating hydrocephalus, Depressed nasal bridge ORPHA:1064
Joubert Syndrome With Oculorenal Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:2318
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Hydrocephalus, Anencephaly OMIM:313850
Joubert Syndrome With Renal Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:220497
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Muenke Syndrome
Hydrocephalus ORPHA:53271
Arachnoiditis
Hydrocephalus ORPHA:137817
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Hydrocephalus, Anencephaly, Depressed nasal bridge OMIM:616546
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Choanal atresia, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:123790
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Achondroplasia
Short nasal bridge, Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:15
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Supracardiac total anomalous pulmonary venou... ORPHA:99125
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Hydrocephalus, Wide nasal bridge ORPHA:1865
Multiple Sulfatase Deficiency
Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:585
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth OMIM:259720
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Ventriculomegaly, Hydrocephalus, Depressed nasal bridge ORPHA:1812
Pentalogy Of Cantrell
Pulmonary hypoplasia, Hydrocephalus, Anencephaly ORPHA:1335
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus, Depressed nasal bridge OMIM:608091
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Short nose, Long nose, Hydrocephalus, Depressed nasal bridge OMIM:618590
Genitopalatocardiac Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:2075
Hyperphosphatasia With Mental Retardation Syndrome 1
Short nose, Hydrocephalus, Wide nasal bridge, Broad nasal tip OMIM:239300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Umbilical hernia, Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:1555
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus, Wide nasal bridge, Depressed nasal bridge OMIM:104350
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus, Wide nasal bridge OMIM:612651
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Umbilical hernia, Recurrent upper respiratory tract infections OMIM:253220
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Fg Syndrome Type 1
Ventriculomegaly, Choanal atresia, Umbilical hernia, Hydrocephalus, Prominent nose ORPHA:93932
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Dandy-Walker malformation, Depressed nasal bridge OMIM:612582
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Trisomy 17P
Hydrocephalus, Wide nose, Prominent nose ORPHA:261290
Otopalatodigital Syndrome Type 2
Short nose, Hypoplastic frontal sinuses, Pulmonary hypoplasia, Myelomeningocele, Hydrocephalus, D... ORPHA:90652
Mucopolysaccharidosis, Type Ii
Tracheobronchomalacia, Hydrocephalus, Umbilical hernia OMIM:309900
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Joubert Syndrome With Ocular Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:220493
Mucopolysaccharidosis, Type Vi
Recurrent upper respiratory tract infections, Hydrocephalus, Umbilical hernia, Depressed nasal br... OMIM:253200
Griscelli Syndrome
Hydrocephalus ORPHA:381
Whipple Disease
Pleuritis, Hydrocephalus ORPHA:3452
Distal Tetrasomy 15Q
Pulmonary hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Lymphangioleiomyomatosis
Emphysema, Recurrent respiratory infections, Atelectasis, Chylothorax, Hemoptysis, Pulmonary lymp... ORPHA:538
Marfanoid-Progeroid-Lipodystrophy Syndrome
Narrow nose, Prominent nasal bridge, Hydrocephalus, Asymmetric ventricles OMIM:616914
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligospermia ORPHA:8
Pycnodysostosis
Hydrocephalus ORPHA:763
Coccidioidomycosis
Parenchymal consolidation, Exudative pleural effusion, CSF lymphocytic pleiocytosis, Pneumonia, P... ORPHA:228123
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Desmosterolosis
Short nose, Ventriculomegaly, Hypoplastic nasal bridge, Total anomalous pulmonary venous return, ... OMIM:602398
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Holoprosencephaly 7
Semilobar holoprosencephaly, Absent nasal septal cartilage, Short nose, Alobar holoprosencephaly,... OMIM:610828
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Desmosterolosis
Anomalous pulmonary venous return, Short nose, Ventriculomegaly, Hydrocephalus, Depressed nasal b... ORPHA:35107
Meckel Syndrome
Situs inversus totalis, Anencephaly, Lobar holoprosencephaly, Hydrocephalus, Dandy-Walker malform... ORPHA:564
Adams-Oliver Syndrome
Pulmonary artery atresia, Hydrocephalus ORPHA:974
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Anencephaly, Atelectasis, Neonatal death, Pulmonary hypoplasia, Hydrocephalus OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Choanal atresia, Hydrocephalus, Depressed nasal bridge OMIM:207410
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Apert Syndrome
Ventriculomegaly, Choanal atresia, Hydrocephalus, Depressed nasal bridge ORPHA:87
Laurin-Sandrow Syndrome
Hydrocephalus, Underdeveloped nasal alae, Prominent nose ORPHA:2378
Holoprosencephaly
Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Choanal atresia, Aplasia/Hypoplasia of t... ORPHA:2162
Stromme Syndrome
Prominent nasal bridge, Hydrocephalus, Stillbirth, Wide nasal bridge OMIM:243605
Mucopolysaccharidosis Type 1
Hydrocephalus, Abnormal nasal morphology, Sinusitis, Recurrent respiratory infections, Depressed ... ORPHA:579
Campomelic Dysplasia
Tracheobronchomalacia, Hydrocephalus, Depressed nasal bridge OMIM:114290
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Ventriculomegaly, Wide nose, Anteverted nares, Hydrocephalus, Dandy-Walker malformati... OMIM:257300
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
H Syndrome
Recurrent pharyngitis, Azoospermia, Hydrocephalus, Bronchiectasis ORPHA:168569
Apert Syndrome
Anomalous tracheal cartilage, Ventriculomegaly, Choanal atresia, Hydrocephalus, Depressed nasal b... OMIM:101200
Cerebrooculonasal Syndrome
Short nose, Anteverted nares, Proboscis, Prominent nasal bridge, Hydrocephalus OMIM:605627
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:101800
Mirage Syndrome
Aspiration pneumonia, Hydrocephalus OMIM:617053
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Medulloblastoma
Hydrocephalus, Neoplasm of the lung ORPHA:616
Jacobsen Syndrome
Short nose, Holoprosencephaly, Recurrent respiratory infections, Anteverted nares, Hydrocephalus,... OMIM:147791
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Trisomy 8P
Abnormal lung lobation, Short nose, Recurrent upper respiratory tract infections, Peripheral pulm... ORPHA:264450
Cardiofaciocutaneous Syndrome 1
Short nose, Bulbous nose, Anteverted nares, Hydrocephalus, Depressed nasal bridge OMIM:115150
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Functioning Gonadotropic Adenoma
Hydrocephalus, Oligospermia ORPHA:91348
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Marden-Walker Syndrome
Situs inversus totalis, Hydrocephalus ORPHA:2461
Mohr Syndrome
Broad nasal tip, Hydrocephalus, Depressed nasal bridge OMIM:252100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus, Umbilical hernia, Abnormal lung lobation ORPHA:2166
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Anteverted nares, Communicating hydrocephalus, Bulbous nose ORPHA:1780
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Hydrocephalus ORPHA:2306
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Pulmonary hypoplasia, Anteverte... ORPHA:536467
Opitz-Kaveggia Syndrome
Abnormal nasopharynx morphology, Choanal atresia, Umbilical hernia, Hydrocephalus, Prominent nose OMIM:305450
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Depressed nasal bridge OMIM:304120
Mycophenolate Mofetil Embryopathy
Bifid nose, Tracheoesophageal fistula, Hydrocephalus, Tracheomalacia ORPHA:268249
Hurler Syndrome
Hydrocephalus, Wide nasal bridge, Anteverted nares, Recurrent respiratory infections, Depressed n... ORPHA:93473
Monosomy 9Q22.3
Short nose, Ventriculomegaly, Hydrocephalus, Umbilical hernia ORPHA:77301
Acrofacial Dysostosis 1, Nager Type
Laryngeal hypoplasia, Aqueductal stenosis, Hypoplasia of the epiglottis, Prominent nasal bridge, ... OMIM:154400
Mucopolysaccharidosis Type 3
Respiratory tract infection, Ventriculomegaly, Umbilical hernia, Recurrent sinopulmonary infectio... ORPHA:581
Hydrolethalus Syndrome 1
Stillbirth, Laryngeal hypoplasia, Arrhinencephaly, Anencephaly, Tracheal stenosis, Midline defect... OMIM:236680
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Wide nasal bridge, Paranasal sinus hypoplasia, Laryngeal web, Spina bifida occult... OMIM:300373
Tetraamelia Syndrome 1
Choanal atresia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Single naris, Hydroce... OMIM:273395
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus, Tracheomalacia, Broad nasal tip ORPHA:96121
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Pulmonary hypoplasia, Small placenta, Hydrocephalus OMIM:208150
Cardiofaciocutaneous Syndrome
Short nose, Anteverted nares, Hydrocephalus, Depressed nasal bridge ORPHA:1340
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge OMIM:311200
Cryptococcosis
Pleural effusion, Nodular pattern on pulmonary HRCT, Hydrocephalus, Pneumonia ORPHA:1546
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Wide nasal bridge ORPHA:314585
Hemifacial Microsomia
Pulmonary hypoplasia, Hydrocephalus, Branchial anomaly OMIM:164210
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Hydrocephalus, Umbilical hernia OMIM:182212
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Subglottic stenosis, Laryngea... OMIM:219000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Monosomy 18Q
Prominent nose, Hydrocephalus, Bulbous nose, Depressed nasal bridge ORPHA:1600
Aymé-Gripp Syndrome
Short nose, Ventriculomegaly, Hydrocephalus, Depressed nasal bridge ORPHA:1272
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Recurrent respiratory infections, Hydrocephalus ORPHA:505248
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Spina bifida, Bulbous nose, Arrhinencephaly, Choanal atresia, Abnormality... ORPHA:567
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Wide nasal bridge OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Spina bifida, Bulbous nose, Underdeveloped nasal alae, Ventriculomegaly, Recurr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Spina bifida, Bulbous nose, Underdeveloped nasal alae, Ventriculomegaly, Recurr... ORPHA:363958
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Prominent nasal bridge, Hydrocephalus OMIM:617011
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Depressed nasal bridge OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Hajdu-Cheney Syndrome
Umbilical hernia, Absent frontal sinuses, Anteverted nares, Hydrocephalus, Wide nose OMIM:102500
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Short nose, Bulbous nose, Oligospermia, Stillbirth, Choanal atresia, Hydrocephalus, Depressed nas... ORPHA:95699
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta, Depressed nasal bridge ORPHA:235
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Holoprosencephaly, Wide nasal bridge, Pulmonary hypoplasia, Anteverted na... OMIM:270400
Meckel Syndrome, Type 1
Abnormality of the larynx, Large placenta, Anencephaly, Pulmonary hypoplasia, Hydrocephalus, Dand... OMIM:249000
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Choanal atresia, Anencephaly, Wide nasal bridge, Spina bifida... ORPHA:2369
Hajdu-Cheney Syndrome
Hydrocephalus, Umbilical hernia, Wide nasal bridge, Absent frontal sinuses, Anteverted nares, Rec... ORPHA:955
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles, Recurrent pneumonia OMIM:612301
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Hydrocephalus, Underdeveloped nasal alae, Tracheal stenosis ORPHA:163979
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Anteverted nares, Hydrocephalus ORPHA:457284
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Anteverted nares, Communicating hydrocephalus, Umbilical hernia ORPHA:2462
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax ORPHA:137667
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Bulbous nose, Wide nasal bridge ORPHA:250989
Fontaine Progeroid Syndrome
Short nose, Umbilical hernia, Neonatal death, Pulmonary hypoplasia, Recurrent aspiration pneumoni... OMIM:612289
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Knobloch Syndrome
Hydrocephalus, Depressed nasal bridge ORPHA:1571
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Bulbous nose, Wide nose ORPHA:261337
Mend Syndrome
Abnormal nasal bridge morphology, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
Fanconi Anemia
Spina bifida, Azoospermia, Hydrocephalus, Ventriculomegaly, Choanal atresia, Umbilical hernia, Tr... ORPHA:84
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary fibrosis, Ventriculomegaly, Abnormal pulmonary interstitial morphology, Hy... ORPHA:2072
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Joubert Syndrome With Hepatic Defect
Prominent nasal bridge, Anteverted nares, Hydrocephalus ORPHA:1454
Histiocytoid Cardiomyopathy
Pulmonary edema, Laryngeal web, Hydrocephalus ORPHA:137675
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:236670
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Hydrocephalus OMIM:227646
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Facial Dysmorphism With Multiple Malformations
Short nose, Hydrocephalus, Bulbous nose, Wide nasal bridge OMIM:227255
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Gaucher Disease
Abnormal pulmonary interstitial morphology, Ventriculomegaly, Hydrocephalus, Pulmonary fibrosis ORPHA:355
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Pneumonia, Umbilical hernia, Communicating hydrocephalus, Depr... ORPHA:309282
Osteogenesis Imperfecta
Ventriculomegaly, Umbilical hernia, Pulmonary hypoplasia, Hydrocephalus, Noncommunicating hydroce... ORPHA:666
Pituitary Deficiency Due To Rathke Cleft Cysts
Abnormality of the sphenoid sinus, Hydrocephalus ORPHA:91350
Holoprosencephaly 9
Holoprosencephaly, Single naris, Hydrocephalus, Depressed nasal bridge OMIM:610829
Costello Syndrome
Ventriculomegaly, Tracheomalacia, Bronchomalacia, Anteverted nares, Hydrocephalus, Pneumothorax, ... OMIM:218040
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Semilobar Holoprosencephaly
Neural tube defect, Proboscis, Aspiration pneumonia, Single naris, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Proboscis, Aspiration pneumonia, Single naris, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Proboscis, Aspiration pneumonia, Single naris, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Proboscis, Aspiration pneumonia, Single naris, Hydrocephalus ORPHA:93924
Baller-Gerold Syndrome
Underdeveloped nasal alae, Prominent nasal bridge, Hydrocephalus, Spina bifida occulta OMIM:218600
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Hydrocephalus ORPHA:2658
Craniopharyngioma
Hydrocephalus ORPHA:54595
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus, Depressed nasal bridge ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Ventriculomegaly, Hydrocephalus OMIM:253280
Tetrasomy 9P
Bulbous nose, Oligospermia, Umbilical hernia, Pulmonary hypoplasia, Hydrocephalus, Dandy-Walker m... ORPHA:3310
Tuberous Sclerosis Complex
Respiratory tract infection, Hemoptysis, Pulmonary lymphangiomyomatosis, Subependymal nodules, No... ORPHA:805
Focal Dermal Hypoplasia
Abnormality of the larynx, Umbilical hernia, Spina bifida occulta, Broad nasal tip, Myelomeningoc... OMIM:305600
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Wide nose, Wide nasal bridge ORPHA:2556
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hydrocephalus, Pulmonary artery stenosis ORPHA:667
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Prominent nasal bridge, Communicating hydrocephalus ORPHA:457359
Pseudoaminopterin Syndrome
Prominent nasal bridge, Hydrocephalus ORPHA:221120
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Umbilical hernia, Wide nasal bridge, Communicating ... ORPHA:580
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Umbilical hernia, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hydroc... OMIM:312870
Peters Plus Syndrome
Short nose, Ventriculomegaly, Abnormal pulmonary vein morphology, Umbilical hernia, Spina bifida ... ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hydrocephalus, Dandy-Walker malformation OMIM:264090
Cockayne Syndrome A
Slender nose, Normal pressure hydrocephalus OMIM:216400
Cockayne Syndrome B
Slender nose, Normal pressure hydrocephalus OMIM:133540
Meningioma
Hydrocephalus ORPHA:2495
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Hydrocephalus OMIM:609192
Neurofibromatosis Type 2
Hydrocephalus ORPHA:637
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Pulmonary artery aneurysm, Hydrocephalus, Umbilical hernia OMIM:610168
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Yunis-Varon Syndrome
Arrhinencephaly, Anteverted nares, Hydrocephalus ORPHA:3472
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Hydrocephalus OMIM:619321
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Hydrocephalus, Wide nasal bridge OMIM:194190
Chromosome 1P36 Deletion Syndrome
Abnormal lung lobation, Wide nasal bridge, Hydrocephalus, Dilation of lateral ventricles, Depress... OMIM:607872
Coffin-Siris Syndrome 12
Bulbous nose, Underdeveloped nasal alae, Prominent nasal bridge, Anteverted nares, Noncommunicati... OMIM:619325
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormality of the sphenoid sinus, Hydrocephalus, Sinusitis ORPHA:363700
Roberts-Sc Phocomelia Syndrome
Narrow naris, Stillbirth, Underdeveloped nasal alae, Wide nasal bridge, Hydrocephalus OMIM:268300
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Wiedemann-Rautenstrauch Syndrome
Anteverted nares, Hydrocephalus, Laryngomalacia ORPHA:3455
Peters-Plus Syndrome
Ventriculomegaly, Hydrocephalus, Umbilical hernia OMIM:261540
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

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 Ccdc40

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 Ccdc40.

No publications found that use IMPC mice or data for Ccdc40.

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MGI Allele Allele Type Produced
Ccdc40tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc40em1(IMPC)J Exon Deletion Mice
Ccdc40tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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