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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
7 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Craniorachischisis

CACNG2 DACT1
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.65)
DACT1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Craniorachischisis
DACT1



Autosomal dominant nonsyndromic intellectual deficit
Craniorachischisis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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

External references:
13 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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)