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17q11.2 microduplication syndrome
1 OMIM reference -
1 associated gene
38 connected diseases
17 signs/symptoms
Disease Type of connection
17q11 microdeletion syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Noonan syndrome
Watson syndrome
Autosomal dominant nonsyndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Myhre syndrome
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Acute promyelocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Coffin-Siris syndrome
Diffuse cutaneous systemic sclerosis
Familial rhabdoid tumor
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Synonym(s):
- Dup(17)(q11.2)
- Grisart-Destrée syndrome
- Trisomy 17q11.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Gene symbol UniProt reference OMIM reference
NF1 P21359613113
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