ADDWOC
MCID: DND021
MIFTS: 9

Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant (ADDWOC)

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 58 30 74
Dandy-Walker Malformation, with Occipital Cephalocele, Autosomal Dominant 41
Addwoc 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

33
dandy-walker malformation with occipital cephalocele, autosomal dominant:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 609222
MedGen 43 C2674987
SNOMED-CT via HPO 70 14447001 263681008
UMLS 74 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 dandy-walker malformation, with occipital cephalocele, autosomal dominant. 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...

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

33
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 33 HP:0001305
2 macrocephaly at birth 33 HP:0004488
3 atretic occipital cephalocele 33 HP:0004470

Symptoms via clinical synopsis from OMIM:

58
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

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 30

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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