MCID: DND021
MIFTS: 9

Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant

Aliases & Classifications for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

MalaCards integrated aliases for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant:

Name: Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 57 29 73
Addwoc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

32
dandy-walker malformation with occipital cephalocele, autosomal dominant:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 609222
MedGen 42 C2674987
SNOMED-CT via HPO 69 263681008 14447001
UMLS 73 C2674987

Summaries for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

MalaCards based summary : Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant, is also known as addwoc. Related phenotypes are dandy-walker malformation and macrocephaly at birth

Description from OMIM: 609222

Related Diseases for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Symptoms & Phenotypes for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly at birth
occipital cephalocele, atretic
subscalp nodule (approximately 1.5 to 4 cm)

Neurologic Central Nervous System:
mri shows atretic occipital cephalocele with bony skull defect
normal neurologic development in most cases

Skeletal Skull:
bony defect with cephalocele


Clinical features from OMIM:

609222

Human phenotypes related to Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 32 HP:0001305
2 macrocephaly at birth 32 HP:0004488
3 atretic occipital cephalocele 32 HP:0004470

Drugs & Therapeutics for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Search Clinical Trials , NIH Clinical Center for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant

Genetic Tests for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Genetic tests related to Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 29

Anatomical Context for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Publications for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Variations for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Expression for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Search GEO for disease gene expression data for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant.

Pathways for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

GO Terms for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

Sources for Dandy-Walker Malformation with Occipital Cephalocele, Autosomal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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