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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
17 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
17q11.2 microduplication syndrome

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


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRIN1
DYNC1H1
(0.59)
(0.14)
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
17q11.2 microduplication syndrome
NF1



Autosomal dominant nonsyndromic intellectual deficit
17q11.2 microduplication syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Dup(17)(q11.2)
- Grisart-Destrée syndrome
- Trisomy 17q11.2

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

17q11.2 microduplication syndrome

Very frequent
- Total / partial trisomy / duplication

Frequent
- Alopecia
- Enamel anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Occasional
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Bifid tip / cleft nose / supernumerary nose
- Flared / thick ala nasi
- Flat cheek bones / malar hypoplasia
- Long midface
- Macroorchidism / macrotestes
- Nasal septum deviation
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / retracted lips


Autosomal dominant nonsyndromic intellectual deficit

(no data available)