ODCs

Cytoscape Web

Click node...

17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

COMMON GENES: 1

17q11.2 microduplication syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

NF1	(UniProt - OMIM)		NF1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


COMMON GENES	NF1

Citations in the biomedical literature:

17q11 microdeletion syndrome		17q11.2 microduplication syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Dup(17)(q11.2) - Grisart-DestrÃ©e 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
17q11 microdeletion syndrome
(no data available)