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Craniorachischisis
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
Craniorachischisis
Distal 17p13.3 microdeletion syndrome

DACT1
(UniProt - OMIM)
 YWHAE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DACT1
(0.63)
YWHAE


Citations in the biomedical literature:


Craniorachischisis
DACT1
Distal 17p13.3 microdeletion syndrome
YWHAE



Craniorachischisis
Distal 17p13.3 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Craniorachischisis

Very frequent
- Anencephaly / acrania
- Early death / lethality
- Spina bifida

Occasional
- Diaphragmatic hernia / defect / agenesis
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Omphalocele / exomphalos
- Sirenomelia / mermaid / lower limb fusion


Distal 17p13.3 microdeletion syndrome

(no data available)