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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
3 associated genes
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
17q11 microdeletion syndrome

CACNG2 NF1
CDH15 RNF135
CTNNB1 SUZ12
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
GRIN1
DYNC1H1
(0.63)
(0.59)
(0.14)
SUZ12
NF1
NF1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
17q11 microdeletion syndrome
NF1 RNF135 SUZ12



Autosomal dominant nonsyndromic intellectual deficit
17q11 microdeletion syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin 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:
(no data available)

External references:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.