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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
17 signs/symptoms
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
17q11.2 microduplication syndrome

NF1 NF1


COMMON
GENES
NF1



Citations in the biomedical literature:


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
NF1
17q11.2 microduplication syndrome



Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
17q11.2 microduplication syndrome

Synonym(s):
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion

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

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
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:
1 OMIM reference -
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


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

(no data available)