Dandy-Walker Syndrome (DWS)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Syndrome

MalaCards integrated aliases for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 56 12 74 25 53 36 29 13 6 43 15 17 71
Atresia of Foramina of Magendie and Luschka 12 32
Dandy-Walker Malformation 25 54
Dandy-Walker Complex 52 25
Dws 56 25
Hydrocephalus, Noncommunicating, Dandy-Walker Type 25
Hydrocephalus, Internal, Dandy-Walker Type 25
Dandy-Walker Syndrome or Malformation 52
Isolated Dandy-Walker Malformation 58
Luschka-Magendie Foramina Atresia 25
Dandy-Walker Deformity 25
Syndrome, Dandy-Walker 39
Dandy-Walker Variant 52
Mega Cisterna Magna 52
Mega-Cisterna Magna 58
Dandy-Walker Cyst 25
Dw Complex 52
Dwm 25


Orphanet epidemiological data:

isolated dandy-walker malformation
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;


isolated cases


dandy-walker syndrome:
Inheritance heterogeneous sporadic


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:2785
OMIM 56 220200
KEGG 36 H01678
MeSH 43 D003616
NCIt 49 C75012
SNOMED-CT 67 14447001
ICD10 32 Q03.1
ICD10 via Orphanet 33 Q03.1 Q07.8
UMLS via Orphanet 72 C0010964 C3164501
MedGen 41 C0010964
UMLS 71 C0010964

Summaries for Dandy-Walker Syndrome

Genetics Home Reference : 25 Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions. In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. Some children have a buildup of fluid in the brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition. Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), or a failure of some nerve cells (neurons) to migrate to their proper location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms. Dandy-Walker malformation typically affects only the brain, but problems in other systems can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features. In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. These individuals typically have a different range of features than those affected in infancy, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes. Rarely, people with Dandy-Walker malformation have no health problems related to the condition. Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.

MalaCards based summary : Dandy-Walker Syndrome, also known as atresia of foramina of magendie and luschka, is related to isolated dandy-walker malformation with hydrocephalus and isolated dandy-walker malformation without hydrocephalus, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related phenotypes are prominent occiput and dandy-walker malformation

Disease Ontology : 12 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.

NIH Rare Diseases : 52 Dandy-Walker complex i s a group of disorders that affect the development of the brain. The changes in brain development are present from birth (congenital ). Dandy-Walker complex affects the formation of the area of the brain known as the cerebellum , which is responsible for coordinating movement, and the fluid-filled spaces around it. People with Dandy-Walker complex may have a portion of the brain called the cerebellar vermis that is smaller than expected (hypoplastic) or completely absent (aplastic). The cerebellar vermis is the area of the brain between the two halves of the cerebellum. People with Dandy-Walker complex have a larger than expected fourth ventricle of the brain. This ventricle allows fluid to flow between the upper and lower areas of the brain and spinal cord. People with Dandy-Walker complex may have an enlarged portion of the base of the skull (posterior fossa). Dandy-Walker complex may be more common in females than in males. Dandy-Walker complex is a group of disorders that have overlapping symptoms. These disorders include: Dandy-Walker malformation (also known as Dandy-Walker syndrome ): having a small cerebellar vermis, large fourth ventricle, and enlarged posterior fossa Isolated cerebellar vermis hypoplasia (sometimes known as Dandy-Walker variant): having a small cerebellar vermis without other features of Dandy-Walker complex Mega-cisterna magna : having an enlarged posterior fossa with a typically developed cerebellum. This may be a normal variant and may not cause any health problems. Posterior fossa arachnoid cyst : the development of a cyst on the posterior fossa without any other features of Dandy-Walker complex Each of these disorders can have separate causes and different long-term outlooks. In order to provide families with more information about the specific developmental differences in the brain and the long-term outlook, a person with Dandy-Walker complex may be given a more specific diagnosis. In some cases, Dandy-Walker complex is caused by an underlying genetic change. These genetic changes may cause Dandy-Walker complex alone, or they may cause Dandy-Walker complex as well as other health problems. In these situations, the complex can run in families. However, in most situations, Dandy-Walker complex is caused by a combination of genetic and environmental factors . Dandy-Walker complex can be diagnosed by imaging of the brain such as ultrasound , CT scan , or MRI scan . Treatment options may include a surgery to place a ventriculoperitoneal shunt that relieves excess fluid from the brain, as well as physical and occupational therapies .

OMIM : 56 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985). (220200)

NINDS : 53 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

KEGG : 36 Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced tentorium. Patients often have motor deficits such as delayed motor development, hypotonia and ataxia. About half have mental retardation, and some have hydrocephalus. It has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal (CP) shunt insertion are the most common choices in the treatment of DWS.

Wikipedia : 74 Dandy-Walker malformation (DWM), also known as Dandy-Walker syndrome (DWS), is a rare congenital brain... more...

Related Diseases for Dandy-Walker Syndrome

Diseases related to Dandy-Walker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 491)
# Related Disease Score Top Affiliating Genes
1 isolated dandy-walker malformation with hydrocephalus 31.5 ZIC4 ZIC1
2 isolated dandy-walker malformation without hydrocephalus 31.5 ZIC4 ZIC1
3 dandy-walker malformation with postaxial polydactyly 13.1
4 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.8
5 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.8
6 port-wine nevi-mega cisterna magna-hydrocephalus syndrome 12.7
7 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.6
8 genetic syndrome with a dandy-walker malformation as a major feature 12.6
9 syndrome with a dandy-walker malformation as a major feature 12.6
10 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.6
11 braddock jones superneau syndrome 12.5
12 meckel syndrome, type 7 12.0
13 marden-walker syndrome 12.0
14 corpus callosum, agenesis of 11.9
15 otopalatodigital syndrome, type ii 11.8
16 syringomyelia 11.8
17 acrocallosal syndrome 11.7
18 heart and brain malformation syndrome 11.7
19 brain abnormalities, neurodegeneration, and dysosteosclerosis 11.7
20 ritscher-schinzel syndrome 1 11.5
21 aase-smith syndrome i 11.5
22 oculocerebral syndrome with hypopigmentation 11.5
23 anemia, sideroblastic, and spinocerebellar ataxia 11.5
24 acromelic frontonasal dysostosis 11.5
25 hydrocephalus, congenital, 3, with brain anomalies 11.5
26 ritscher-schinzel syndrome 11.5
27 mosaic variegated aneuploidy syndrome 11.5
28 macrocephaly-short stature-paraplegia syndrome 11.5
29 hydromyelia 11.5
30 syringohydromyelia 11.5
31 hydrocephalus 10.9
32 hydrocephalus, autosomal dominant 10.8
33 blake pouch cyst 10.8
34 meckel syndrome, type 1 10.6
35 meningocele 10.6
36 chromosomal triplication 10.5
37 encephalocele 10.5
38 hypertelorism 10.5
39 ataxia and polyneuropathy, adult-onset 10.5
40 dwarfism 10.5
41 epicanthus 10.5
42 blepharophimosis 10.5
43 chromosome 9p duplication 10.5
44 tetrasomy 9p 10.5
45 congenital hydrocephalus 10.5
46 syringomyelia, noncommunicating isolated 10.4
47 occipital encephalocele 10.4
48 blepharophimosis, ptosis, and epicanthus inversus 10.4
49 ichthyosis 10.4
50 orofaciodigital syndrome 10.4

Graphical network of the top 20 diseases related to Dandy-Walker Syndrome:

Diseases related to Dandy-Walker Syndrome

Symptoms & Phenotypes for Dandy-Walker Syndrome

Human phenotypes related to Dandy-Walker Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
2 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
3 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
6 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
7 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
8 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
9 hydrocephalus 31 HP:0000238
10 cranial nerve paralysis 31 HP:0006824
11 abnormality of the cardiovascular system 58 Occasional (29-5%)
12 nystagmus 31 HP:0000639
13 agenesis of cerebellar vermis 31 HP:0002335
14 truncal ataxia 31 HP:0002078
15 dilated fourth ventricle 31 HP:0002198
16 partial absence of cerebellar vermis 31 HP:0002951
17 elevated imprint of the transverse sinuses 31 HP:0000930
18 thinning and bulging of the posterior fossa bones 31 HP:0000931
19 posterior fossa cyst at the fourth ventricle 31 HP:0000933

Symptoms via clinical synopsis from OMIM:

Neurologic Central Nervous System:
truncal ataxia
dilated fourth ventricle
elevated imprint of the transverse sinuses
posterior fossa cyst at the fourth ventricle
Head And Neck Head:
bulging occiput

Laboratory Abnormalities:
interstitial deletions of 3q, de novo (in some patients)

Head And Neck Eyes:

Skeletal Skull:
thinning and bulging of posterior fossa bones

Clinical features from OMIM:


UMLS symptoms related to Dandy-Walker Syndrome:

cerebellar ataxia, ataxia, truncal

MGI Mouse Phenotypes related to Dandy-Walker Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 CHN1 CPT2 DNAL4 DPH1 FOXC1 KIAA1109
2 skeleton MP:0005390 9.23 CHN1 CPT2 DNAL4 DPH1 FOXC1 PHF14

Drugs & Therapeutics for Dandy-Walker Syndrome

Drugs for Dandy-Walker Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, Nutraceutical 9000-38-8
2 Liver Extracts

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Influence of Imaging Angle in Measurement of Cisterna Magna in the Second Trimester Completed NCT03697902
2 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
4 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305

Search NIH Clinical Center for Dandy-Walker Syndrome

Cochrane evidence based reviews: dandy-walker syndrome

Genetic Tests for Dandy-Walker Syndrome

Genetic tests related to Dandy-Walker Syndrome:

# Genetic test Affiliating Genes
1 Dandy-Walker Syndrome 29

Anatomical Context for Dandy-Walker Syndrome

MalaCards organs/tissues related to Dandy-Walker Syndrome:

Brain, Cerebellum, Heart, Eye, Spinal Cord, Kidney, Bone

Publications for Dandy-Walker Syndrome

Articles related to Dandy-Walker Syndrome:

(show top 50) (show all 946)
# Title Authors PMID Year
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. 56 61
15338008 2004
Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome? 56 61
7538262 1994
Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. 56 61
4064366 1985
Dandy-Walker malformation in identical twins. 61 56
7193825 1981
The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. 56 61
4343429 1972
14045004 1963
The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie. 56 61
13118372 1954
The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging. 52 61
17369695 2007
Familial occurrence of isolated Dandy-Walker variant in two consecutive male fetuses. 56
17375534 2006
Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs. 56
2240029 1990
A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. 56
6938130 1980
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 61 54
9061685 1997
Overexpression of nestin and vimentin in ependymal cells in hydrocephalus. 54 61
8811130 1996
Three-dimensional volumetric study with VOCAL in normal and abnormal posterior fossa fetuses. 61
30231661 2020
Genetic tests aid in counseling of fetuses with cerebellar vermis defects. 61
32386258 2020
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present. 61
32472476 2020
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association. 61
31859376 2020
Tremor Caused by Dandy-Walker Syndrome Concomitant with Syringomyelia: Case Report and Review of the Literature Review. 61
31954915 2020
Neurocognitive profile of a man with Dandy-Walker malformation: Evidence of subtle cerebellar cognitive affective syndrome. 61
30821610 2020
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
Prognosis regarding shunt revision and mortality among hydrocephalus patients below the age of 2 years and the association to patient-related risk factors. 61
32219607 2020
Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review. 61
31942658 2020
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. 61
31756055 2020
Acute Promyelocytic Leukemia in a Child With Dandy-Walker Malformation: A Rare Association. 61
31693513 2020
Nivolumab-induced type 1 diabetes mellitus as an immune-related adverse event. 61
30955467 2020
[Genetic diagnosis of a fetus with Dandy-Walker syndrome]. 61
31922586 2020
A rare case of Dandy-Walker syndrome in the 12-year-old girl. 61
32174637 2020
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
Rare Association of Dandy-Walker Malformation With a Giant Occipital Meningocele. 61
32035712 2019
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. 61
31727177 2019
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model. 61
31441071 2019
Quantitative fetal MRI assessment of cystic posterior fossa malformations. 61
31595598 2019
A Dandy-Walker malformation associated with ganglioglioma. 61
31567478 2019
Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. 61
31641664 2019
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. 61
31624095 2019
Redefining the Etiologic Landscape of Cerebellar Malformations. 61
31474318 2019
Lessons Learned From a Burn-Injured Pediatric Patient With Dandy-Walker Syndrome After Multiple Anesthetics: A Case Report. 61
30985318 2019
Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation. 61
31101983 2019
Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations. 61
30207001 2019
[Dandy-Walker malformation. The CRIT protocol. A propos of a case]. 61
31370948 2019
Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome. 61
31288482 2019
[Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21]. 61
31055824 2019
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. 61
30941910 2019
The "vermian-crest angle": does it allow accurate categorisation of fetal upward rotation of cerebellar vermis on intrauterine MRI? A pilot study. 61
30954236 2019
Differentiating features of posterior fossa at 12-13 weeks' gestation in fetuses with Dandy-Walker malformation and Blake's pouch cyst. 61
30575134 2019
Use of benzodiazepine medications during pregnancy and potential risk for birth defects, National Birth Defects Prevention Study, 1997-2011. 61
30891943 2019
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 61
30327448 2019
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes. 61
30773799 2019
Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis. 61
31218169 2019
Dandy-Walker syndrome associated with syringomyelia in an adult: a case report and literature review. 61
30799663 2019

Variations for Dandy-Walker Syndrome

ClinVar genetic disease variations for Dandy-Walker Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794
2 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter)SNV Pathogenic/Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
3 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro)SNV Pathogenic/Likely pathogenic 183359 rs730882250 17:1943054-1943054 17:2039760-2039760
4 TMEM47 NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)SNV Likely pathogenic 242889 rs1114167296 X:34675112-34675112 X:34656995-34656995
5 MAGED2 NM_177433.3(MAGED2):c.1003del (p.Gln335fs)deletion Likely pathogenic 242888 rs1114167295 X:54838602-54838602 X:54812169-54812169
6 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
7 CACNA1A NM_023035.3(CACNA1A):c.5006G>A (p.Arg1669Gln)SNV Conflicting interpretations of pathogenicity 68432 rs121908247 19:13346507-13346507 19:13235693-13235693
8 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247
9 PHF6 NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)SNV Uncertain significance 523390 rs1556019449 X:133551320-133551320 X:134417290-134417290

Expression for Dandy-Walker Syndrome

Search GEO for disease gene expression data for Dandy-Walker Syndrome.

Pathways for Dandy-Walker Syndrome

GO Terms for Dandy-Walker Syndrome

Biological processes related to Dandy-Walker Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell differentiation GO:0045596 8.92 PRAMEF5 PRAMEF26 PRAMEF18 PRAMEF17

Sources for Dandy-Walker Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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